부산대학교 도서관

Koza, SA; Tabet, AC; Bonaglia, MC; Andres, S; Anderlid, B-M; Aten, E; Stiefsohn, D; Evans, DG; van, Ravenswaaij-Arts CMA; Kant, SG

EUROPEAN JOURNAL OF MEDICAL GENETICS. 66(7):104773-104773

Pebrel-Richard C; Service de Cytogénétique Médicale, UIC CYTMRR, CHU Clermont-Ferrand, Clermont-Ferrand, France.; Kuentz P; Université de Franche-Comté, CHU Besançon, Oncobiologie Génétique Bioinformatique, Besançon, France.; Tabet AC; Département de Génétique, Hôpital Robert Debré, AP-HP, Unité fonctionnelle de Cytogénétique, Paris, France.; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris, Paris, France.; Dupont JM; Fédération de Génétique et de Médecine Genomique, Service de Médecine Génomique des Maladies de Système et d'Organe, APHP, Centre - Université Paris Cité, Paris, France.; Missirian C; Service Biologique de Génétique Médicale, Hôpital Timone Adultes, M2GM, AP-HM, Marseille, France.; Romana S; Hôpital Necker-Enfants Malades, APHP, Service de Médecine Génomique Des Maladies Rares, Paris, France.; INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, Université Paris Cité, Paris, France.; Trost D; Laboratoire CERBA, zac des Epineaux, Frepillon, France.; Rooryck C; CHU de Bordeaux, Service de Génétique Médicale, INSERM, U1211, Bordeaux, France.; Malan V; Hôpital Necker-Enfants Malades, APHP, Service de Médecine Génomique Des Maladies Rares, Paris, France.; INSERM UMR1163, Imagine Institute, Developmental Brain Disorders Laboratory, Université Paris Cité, Paris, France.; Egloff M; Université de Poitiers, INSERM 1084, LNEC, Poitiers, France.; CHU de Poitiers, Service de Génétique, Poitiers, France.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Kröll-Hermi A; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.; Stoetzel C; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Etard C; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.; Halabelian L; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.; Schaefer E; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Scheidecker S; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Payman J; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Geoffroy V; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Prasad M; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Obringer C; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Ruch L; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Girard A; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Zeng H; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada.; Li F; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada.; Plassard D; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France; Plateforme GenomEast, Infrastructure France Génomique, Strasbourg, France.; Keime C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France; Plateforme GenomEast, Infrastructure France Génomique, Strasbourg, France.; Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.; Feger C; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Piton A; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.; Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Castro MAA; Unidade de Genetica, Instituto da Crianca, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.; Ae KC; Unidade de Genetica, Instituto da Crianca, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.; Ruaud L; Université de Paris, UMR 1141 NEURODIDEROT, INSERM, Département de Génétique, Hôpital Universitaire Robert Debré, APHP Nord, Paris, France.; Levy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Dozières B; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, Paris, France.; Tabet AC; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, Paris, France; Neuroscience Department, Génétique Humaine et Fonction Cognitive Unit, Pasteur Institute, Paris, France.; Wentzensen IM; GeneDx Inc., Gaithersburg, MD 20877, USA.; Santiago-Sim T; GeneDx Inc., Gaithersburg, MD 20877, USA.; Yusupov R; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Smeland MF; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Alkhunaizi E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Cowing G; McMaster University Medical Center, Hamilton, ON, Canada.; Li C; McMaster University Medical Center, Hamilton, ON, Canada.; Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud UMC, Nijmegen, the Netherlands.; Feichtinger RG; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Gonorazky H; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada.; Jing G; Department of Pediatric Neurology, West China Second University Hospital, Sichuan University, Chengdu, China.; Wang X; Cipher Gene Ltd., Beijing, China.; Wang J; Cipher Gene Ltd., Beijing, China.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Grinstein L; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Ruiz A; Genetics Laboratory, Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.; Kampmeier A; Institute of Human Genetics, University Medical Center Essen, University of Duisburg-Essen, Essen, Germany.; Kassel O; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.; Kuechler A; Institute of Human Genetics, University Medical Center Essen, University of Duisburg-Essen, Essen, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Woerner A; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Idleburg M; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Kircher SG; Institute of Medical Genetics, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria.; Laccone F; Institute of Medical Genetics, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria.; Golob B; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.; Peterlin B; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.; Čuturilo G; University Children's Hospital Belgrade, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Tasic V; University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia.; Kolvenbach CM; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Ramos LLP; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo 01308-000, Brazil; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 04013-000, Brazil.; Kok F; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo 01308-000, Brazil; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 04013-000, Brazil.; Buck CB; School of Medicine, Anhembi Morumbi University, Piracicaba, Sao Paulo 13425-380, Brazil.; van de Laar IMBH; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; de Man SA; Department of Pediatrics, Amphia Hospital, Breda, the Netherlands.; Taşdelen E; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye.; Sezer A; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye.; Büke A; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye.; Yavuz Z; Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.; Çomoğlu SS; Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.; Costin C; Genetic Center, Akron Children's Hospital, Akron, OH, USA.; Tran Mau Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; INSERM UMR1231 GAD, 21000 Dijon, France.; Lacaze E; Department of Medical Genetics, Le Havre Hospital, Le Havre, France.; Courtin T; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.; Héron D; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.; Keren B; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.; Whalen S; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.; Roume J; Department of Clinical Genetics, Centre de Référence 'AnDDI Rares', Poissy Hospital GHU PIFO, Poissy, France.; Yang Y; Department of Cancer Genetics and Epigenetics, Beckman Research Institute, City of Hope Cancer Center, Duarte, CA, USA.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Arrowsmith CH; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Princess Margaret Cancer Centre and Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 2M9, Canada.; Strähle U; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany; Centre for Organismal Studies (COS), University of Heidelberg, Im Neuenheimer Feld 223, 69120 Heidelberg, Germany.; Dollfus H; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Centre de Référence pour les affections rares en génétique ophtalmologique (CARGO), Filière SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: dollfus@unistra.fr.; Muller J; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada; Unité Fonctionnelle de Bioinformatique Médicale appliquée au diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: jeanmuller@unistra.fr.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Loberti L; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Adamo L; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Antolini E; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Casamassima G; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Destrèe A; Institut de Pathologie et de Génétique, Gosselies, Belgium.; Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.; Genevieve D; Montpellier University and INSERM U1183, Montpellier, France; Reference Center for Malformative Syndrome and Developmental Anomalies, Clinical Genetics Unit, Montpellier University Hospital, ERN ITHACA, Montpellier, France.; Christophe P; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, Dijon, France.; Coubes C; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Möllring AC; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zenker M; Institute of Human Genetics, University Hospital, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.; Levy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Perrin L; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Tabet AC; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Maruani A; Excellence Centre for Autism & Neuro-developmental Disorders, Child and Adolescent Psychiatry Department, Robert Debré Hospital, Paris, and CRMR Déficiences intellectuelles et TND de causes rares-Robert-Debré, Paris, France.; Sorlin A; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Stieber D; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Herissant L; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Dahan K; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Sinibaldi L; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Capolino R; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dentici ML; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dallapiccola B; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Piatelli G; U.O.C. Neurochirurgia, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Digilio MC; Medical Genetics Unit and Scientific Rectorate and Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Caumes R; Service de Génétique Clinique, CHU Lille, Lille, France.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Chwiałkowska K; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.; Jezela-Stanek A; IMAGENE.ME SA, Bialystok, Poland; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Kwasniewski M; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.; Korotko U; IMAGENE.ME SA, Bialystok, Poland; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Białystok, Poland.; Gorzałczyńska E; IMAGENE.ME SA, Bialystok, Poland.; Canitano R; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena, Italy.; Grosso S; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena, Italy.; Rahikkala E; Department of Clinical Genetics, Research Unit of Clinical Medicine, and Medical Research Center Oulu, University of Oulu, and Oulu University Hospital, Oulu, Finland.; Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Zuffardi O; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Caputo V; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Toschi B; Medical Genetics Unit, Oncological Department, University Hospital of Pisa, Pisa, Italy.; Beunders G; University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Leeuwen L; University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; van der Laan L; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Broekema MF; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Groffen AJ; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; van de Kamp JM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; van Haelst MM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Alders M; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Mauro SP; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.; De Razza F; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.; Varvara D; UOC Genetica Medica, Presidio Ospedaliero Vito Fazzi, Lecce, Italy.; Kick J; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Gaspar H; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Maier A; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen, Germany.; Ruault V; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France.; Genesio R; Department of Molecular Medicine and Medical Biotechnology, Federico II University of Naples, Naples, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Tita R; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Bruttini M; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Longo I; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Baldassarri M; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Renieri A; Medical Genetics, University of Siena, Siena, Italy; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: annamaria.pinto@dbm.unisi.it.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Brakta C; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Tabet AC; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, EU, France.; Puel M; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Pacault M; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, EU, France.; Stolzenberg MC; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, UMR 1163, Imagine Institute, INSERM, Paris, EU, France.; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Goudet C; Pediatric Hematology Department, Timone Enfant, Assistance Publique Hôpitaux de Marseille (AP-HM), Marseille, EU, France.; Merger M; Department of Internal Medicine and Clinical Immunology, University of Lille, Lille, EU, France.; Reumaux H; Pediatric Rheumatology Unit, Jeanne de Flandre Hospital, University of Lille, Lille, EU, France.; Lambert N; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Alioua N; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Malan V; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Laboratory of Genomic Medicine for Rare Diseases, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Hanein S; Bioinformatic Platform, Institute of Genetic Diseases, Université Paris-Cité and Structure Fédérative de Recherche Necker, INSERM UMR1163, Imagine, Paris, EU, France.; Dupin-Deguine D; Medical Genetics Department, University of Toulouse, CHU Purpan, Toulouse, EU, France.; Otoneurosurgery and Pediatric ENT Department, University of Toulouse, CHU Purpan, Toulouse, EU, France.; Treiner E; Faculty of Medicine, University Toulouse III Paul Sabatier, Toulouse, France.; Laboratory of Immunology, University Hospital of Toulouse, Toulouse, France.; Toulouse Institute for Infectious and Inflammatory Diseases (Infinity), Inserm UMR1291, Toulouse, EU, France.; Lefèvre G; Institute for Translational Research in Inflammation (INFINITE), Inserm U1286, University of Lille, Lille, EU, France.; Laboratory of Immunology, University of Lille, Lille, EU, France.; Farhat MM; Department of Internal Medicine and Clinical Immunology, University of Lille, Lille, EU, France.; Luca LE; Department of Internal Medicine, Infectious and Tropical Diseases, University Hospital Center of Poitiers, Poitiers, EU, France.; Hureaux M; Department of Genetics, Georges-Pompidou European Hospital, AP-HP, Paris, EU, France.; Reference Center for Hereditary Kidney Diseases in Children and Adults (MARHEA), University of Paris Cité, Paris, EU, France.; Li H; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, EU, France.; Chelloug N; Medical Genetics Department, University of Toulouse, CHU Purpan, Toulouse, EU, France.; Dehak R; Department of Pediatrics, Calais Hospital, Calais, EU, France.; Boussion S; Clinical Genetics Department, University of Lille, Lille, EU, France.; Ouachée-Chardin M; Department of Pediatric Hematology, IHOPe, Hospices Civils de Lyon, Lyon, EU, France.; Schleinitz N; Department of Internal Medicine La Timone, Aix-Marseille University, Assistance Publique - AP-HM, Marseille, EU, France.; Abou Chahla W; Department of Pediatric Hematology, Jeanne de Flandre Hospital, University of Lille, Lille, EU, France.; Barlogis V; Pediatric Hematology Department, Timone Enfant, Assistance Publique Hôpitaux de Marseille (AP-HM), Marseille, EU, France.; Vély F; Aix Marseille Université, CNRS, Inserm, Centre d'Immunologie de Marseille-Luminy, Marseille, EU, France.; Departement of Immunology, Assistance Publique Des Hôpitaux de Marseille, Hôpital de La Timone, Marseille Immunopole, Marseille, EU, France.; Oksenhendler E; Clinical Immunology Department, Saint-Louis Hospital, Paris-Diderot University, Paris, EU, France.; Quartier P; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, AP-HP, Paris, EU, France.; Université Paris-Cité, Paris, EU, France.; Pasquet M; Department of Pediatric Hematology and Immunology, Children's Hospital, University Hospital, Toulouse, EU, France.; Suarez F; Université Paris-Cité, Paris, EU, France.; Department of Clinical Hematology, Necker Hospital for Sick Children, AP-HP, Paris, EU, France.; Centre de Référence Des Déficits Immunitaires Héréditaires (CEREDIH), Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Bustamante J; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, EU, France.; Université Paris-Cité, Paris, EU, France.; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA.; Neven B; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, UMR 1163, Imagine Institute, INSERM, Paris, EU, France.; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, AP-HP, Paris, EU, France.; Université Paris-Cité, Paris, EU, France.; Picard C; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Université Paris-Cité, Paris, EU, France.; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Imagine Institute, Paris, EU, France.; Centre de Référence Des Déficits Immunitaires Héréditaires (CEREDIH), Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Rieux-Laucat F; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, UMR 1163, Imagine Institute, INSERM, Paris, EU, France.; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, EU, France.; Rosain J; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France. jeremie.rosain@institutimagine.org.; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, EU, France. jeremie.rosain@institutimagine.org.; Université Paris-Cité, Paris, EU, France. jeremie.rosain@institutimagine.org.; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA. jeremie.rosain@institutimagine.org.

Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Willim J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Woike D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Greene D; Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Das S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Pfeifer K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Yuan W; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Lindsey A; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Itani O; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Böhme AL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Tibbe D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hönck HH; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hassani Nia F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.; Brunet T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Sorlin A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Vitobello A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Smol T; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Baranano K; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Schatz K; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department for Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Conboy E; Indiana University School of Medicine, Indianapolis, IN, USA.; Vetrini F; Indiana University School of Medicine, Indianapolis, IN, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany.; Grace AN; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Mitchell B; Baylor College of Medicine in San Antonio, San Antonio, TX, USA.; Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Meeks N; Children's Hospital Colorado, Division of Clinical Genetics & Metabolism, Aurora, CO, USA.; Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO, USA.; Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Van-Gils J; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; de Sainte-Agathe JM; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA.; Weisz-Hubshman M; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, Tx, USA.; Tabet AC; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Harder S; Mass spectrometry and Proteome Analytics, Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Silverman GA; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Pak SC; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.; Mumford A; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.; Turro E; Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Schlein C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Kreienkamp@uke.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Sperelakis-Beedham B; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France.; Ruaud L; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Vial Y; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Rachid M; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Neuroscience Department, Human Genetics and Cognitive Function Unit, Pasteur Institute, Paris, France.; Ageorges F; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Goujon L; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Verloes A; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Tabet AC; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France.; Neuroscience Department, Human Genetics and Cognitive Function Unit, Pasteur Institute, Paris, France.; Bourrat E; Department of Dermatology, Hôpital Saint Louis, AP-HP, Paris, France.; Lévy J; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France.

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 9216037 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-3083 (Electronic) Linking ISSN: 09269959 NLM ISO Abbreviation: J Eur Acad Dermatol Venereol Subsets: MEDLINE

Tabet Tsiankoraka Ahmadaly Adam; Pengfei Zhu; Na Li; Zhaoxia Hu; Shouwen Chen

Journal of Engineering Research and Reports. 26:147-164

Courdier C; Service de Génétique médicale, CHU Bordeaux, Bordeaux, France.; Boudjarane J; Laboratoire de Cytogénétique, Département de Génétique Médicale, Hôpital Timone Enfants, AP-HM, Marseille, France.; Malan V; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Muti C; Unité de Génétique, Centre hospitalier de Versailles, Versailles, France.; Sperelakis-Beedham B; Unité de Génétique, Centre hospitalier de Versailles, Versailles, France.; Odent S; Service de Génétique clinique, CHU de Rennes, Rennes, France.; Jaillard S; Service de Cytogénétique et Biologie Cellulaire, CHU de Rennes, Rennes, France.; Quelin C; Service de Génétique clinique, CHU de Rennes, Rennes, France.; Le Caignec C; Service de Génétique médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France.; Patat O; Service de Génétique médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France.; Dubucs C; Service de Génétique médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France.; Julia S; Service de Génétique médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France.; Schluth-Bolard C; Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, Strasbourg, France.; Goumy C; Service de Cytogénétique Médicale, CHU d'Estaing, Clermont-Ferrand, France.; Redon S; Laboratoire de Génétique Moléculaire et d'histocompatibilité, INSERM U1078, CHRU Morvan, Brest, France.; Gaillard JB; Unité de Génétique chromosomique, CHU de Montpellier, Montpellier, France.; Huynh MT; Laboratoire de Génétique médicale, CHU de Nantes, Nantes, France.; Dupont C; Unité fonctionnelle de Cytogénétique, Département de Génétique, Hôpital Robert Debré, AP-HP, Paris, France.; Tabet AC; Unité fonctionnelle de Cytogénétique, Département de Génétique, Hôpital Robert Debré, AP-HP, Paris, France.; Cogan G; Unité fonctionnelle de Cytogénétique, Département de Génétique, Hôpital Robert Debré, AP-HP, Paris, France.; Vialard F; Département de Génétique, Laboratoire de Biologie médicale, CHI de Poissy/Saint-Germain-en-Laye, Poissy, France.; Dard R; Département de Génétique, Laboratoire de Biologie médicale, CHI de Poissy/Saint-Germain-en-Laye, Poissy, France.; Jedraszak G; Laboratoire de Génétique Constitutionnelle, CHU d'Amiens, Amiens, France.; HEMATIM UR4666, Centre Universitaire de Recherche en Santé, Université de Picardie Jules Verne, Amiens, France.; Jobic F; Service de Génétique Clinique et Oncogénétique, CHU d'Amiens, Amiens, France.; Lefebvre M; Service de Foetopathologie, Hôpital Armand Trousseau, Paris, France.; Quenum G; Laboratoire de cytogénétique, Hôpital Armand Trousseau, Paris, France.; Inai S; Service de Gynécologie, CH de Libourne, Libourne, France.; Rama M; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU Lille, Lille, France.; Sauvestre F; Unité de Fœtopathologie, Service de Pathologie, CHU de Bordeaux, Bordeaux, France.; Coatleven F; Service de Gynécologie Obstétrique, CHU de Bordeaux, Bordeaux, France.; Thomas J; Service des maladies Cardio-vasculaires congénitales, Hôpital Haut Lévêque, Bordeaux, France.; Rooryck C; Service de Génétique médicale, CHU Bordeaux, Bordeaux, France.; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), INSERM U1211, Bordeaux, France.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Maruani, A. ; Amsellem, F. ; Tabet, AC. ; Bourgeron, T. ; Delorme, R.

In French Journal of Psychiatry November 2018 1 Supplement:S45-S45

Niceta M; Genetics and Rare Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Pediatrics, Sapienza University, Rome, Italy.; Pizzi S; Genetics and Rare Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Inzana F; Genetic Counseling Service, Regional Hospital of Bolzano, Bolzano, Italy.; Peron A; Medical Genetics, ASST Santi Paolo e Carlo, Ospedale San Paolo, Milan, Italy.; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, Arizona, USA.; Nizon M; CHU Nantes, Service de Génétique Médicale, L'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.; Levy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Mancini C; Genetics and Rare Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Cogné B; Laboratoire de Génétique Moléculaire, CHU de Nantes, Nantes, France.; Radio FC; Genetics and Rare Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Agolini E; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Cocciadiferro D; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Salih MA; Neurology Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Department of Pediatrics, College of Medicine, Almughtaribeen University, Khartoum, Sudan.; Recalcati MP; Medical Cytogenetics Laboratory, Istituto Auxologico Italiano IRCCS, Cusano Milanino, Italy.; Arancio R; Clinica Pediatrica, Ospedale San Paolo, ASST Santi Paolo Carlo, Milan, Italy.; Besnard M; Service de Néonatologie, Centre Hospitalier de Polynésie Française, Papeete, French Polynesia.; Tabet AC; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris, Paris, France.; Cytogenetic Unit, Robert Debré Hospital, APHP, Paris, France.; Kruer MC; Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, Arizona, USA.; Priolo M; UOSD Genetica Medica, Grande Ospedale Metropolitano 'Bianchi-Melacrino-Morelli', Reggio Calabria, Italy.; Dallapiccola B; Genetics and Rare Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Tartaglia M; Genetics and Rare Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Gaasterland, C.M.W. ; Klein Haneveld, M.J. ; Vyshka, Klea; Hugon, A.; van Eeghen, A.M. ; Alhambra, Norma ; Anderlid, Britt-Marie ; Andres, Stephanie ; Aten, Emmelien ; Guedes, Rui Barbosa ; Bonaglia, Maria C. ; Bourgeron, Thomas ; Burdeus-Olavarrieta, Monica ; Carbin, Maya J. ; Cooke, Jennifer ; Damstra, Robert J. ; de Coo, Irenaeus F.M. ; Di Domenico, Stella ; Evans, D. Gareth ; Fernández-Fructuoso, José Ramón ; Grabrucker, Andreas M. ; Gunnarson, Cecilia ; Hadzsiev, Kinga ; Hennekam, Raoul C. ; Jesse, Sarah ; Kant, Sarina G. ; Koza, Sylvia A. ; Kuiper, Els ; Landlust, Annemiek M. ; Lapunzina, Pablo ; Loth, Eva ; Mansour, Sahar ; Maruani, Anna ; Mattina, Teresa ; Matulevičienė, Aušra ; Nevado, Julián ; Parker, Susanne ; Robert, Sandra ; Sala, Carlo ; San José Cáceres, Antonia ; Schön, Michael ; Šiaurytė, Kamilė ; Stemkens, Daphne ; Stiefsohn, Dominique ; Swillen, Ann ; Tabet, Anne C. ; Toro, Roberto ; Turner, Alison ; van Balkom, Ingrid D.C. ; van Buggenhout, Griet ; van Eeghen, Agnies M. ; van Ravenswaaij-Arts, Conny M.A. ; van Weering, Sabrina ; Verpelli, Chiara ; Vignes, Stephane ; Vogels, Annick ; Walinga, Margreet ; Stemkens, D. ; Maruani, A. ; Hadzsiev, K. ; van Balkom, I.D.C.

In European Journal of Medical Genetics July 2023 66(7)

Jacquin C; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Landais E; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Poirsier C; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Afenjar A; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, Paris, France.; Akhavi A; Cardiologie pédiatrique et congénitale, CHU Reims, Reims, France.; Bednarek N; Service de pédiatrie, Pôle Femme Parents Enfants, CHU Reims, Reims, France.; CReSTIC/EA 3804, URCA, Reims, France.; Bénech C; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Bonnard A; Département de Génétique, Hôpital Robert Debré, Paris, France.; Bosquet D; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, Paris, France.; Callier P; Laboratoire de Cytogénétique, CHU Dijon, Dijon, France.; Chantot-Bastaraud S; AP-HP Sorbonne Université, Département de Génétique Médicale, Hôpital Armand Trousseau, Paris, France.; Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Université Montpellier, Centre de référence anomalies du développement SOOR, Montpellier, France.; Coutton C; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble-Alpes, Grenoble, France.; Genetic Epigenetic and Therapies of Infertility team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble, France.; Delobel B; Centre de Génétique Chromosomique, GH de l'Institut Catholique de Lille-Hopital Saint Vincent de Paul, Lille, France.; Descharmes M; Service de pédiatrie, Pôle Femme Parents Enfants, CHU Reims, Reims, France.; Dupont JM; Laboratoire de Cytogénétique Constitutionnelle, APHP. Centre-Université Paris Cité site Cochin, Paris, France.; Gatinois V; Plateforme ChromoStem, Unité de génétique chromosomique, Département de génétique moléculaire et cytogénomique, CHU de Montpellier, Université de Montpellier, Montpellier, France.; Gruchy N; Service de Génétique, CHU Caen, Université Caen Normandie, Caen, France.; Guterman S; Département de Génétique, Centre Hospitalier Intercommunal Poissy-St-Germain-en-Laye, Poissy, France.; Heddar A; Laboratoire de Cytogénétique Constitutionnelle, APHP. Centre-Université Paris Cité site Cochin, Paris, France.; Herissant L; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Heron D; AP-HP Sorbonne Université, Département de Génétique Médicale, Hôpital Armand Trousseau, Paris, France.; Département de Génétique; Centre de Référence Déficience Intellectuelle de Causes Rares, APHP Sorbonne Université, GH Pitié-Salpêtrière, Paris, France.; Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; Jaeger P; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Jouret G; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; Keren B; Département de Génétique; Centre de Référence Déficience Intellectuelle de Causes Rares, APHP Sorbonne Université, GH Pitié-Salpêtrière, Paris, France.; Kuentz P; Oncobiologie Génétique Bioinformatique, CHU de Besançon, Besançon, France.; Le Caignec C; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; Levy J; Département de Génétique, Hôpital Robert Debré, Paris, France.; Lopez N; Service de neuropédiatrie, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire de l'Est Parisien, Paris, France.; Manssens Z; Centre de Génétique Chromosomique, GH de l'Institut Catholique de Lille-Hopital Saint Vincent de Paul, Lille, France.; Martin-Coignard D; Service de génétique médicale, CH du Mans, Le Mans, France.; Marey I; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble-Alpes, Grenoble, France.; Mignot C; AP-HP Sorbonne Université, Département de Génétique Médicale, Hôpital Armand Trousseau, Paris, France.; Département de Génétique; Centre de Référence Déficience Intellectuelle de Causes Rares, APHP Sorbonne Université, GH Pitié-Salpêtrière, Paris, France.; Missirian C; Laboratoire de Génétique Chromosomique, Département de Génétique Médicale, AP- HM, Marseille, France.; Pebrel-Richard C; Service de Cytogénétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.; Pinson L; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Université Montpellier, Centre de référence anomalies du développement SOOR, Montpellier, France.; Puechberty J; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Université Montpellier, Centre de référence anomalies du développement SOOR, Montpellier, France.; Redon S; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Sanlaville D; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Spodenkiewicz M; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Tabet AC; Département de Génétique, Hôpital Robert Debré, Paris, France.; Verloes A; Département de Génétique, Hôpital Robert Debré, Paris, France.; Vieville G; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble-Alpes, Grenoble, France.; Yardin C; Department of Cytogenetics and clinical genetics, Limoges University Hospital, University of Limoges, Limoges, France.; Vialard F; Département de Génétique, Centre Hospitalier Intercommunal Poissy-St-Germain-en-Laye, Poissy, France.; RHuMA, UMR BREED, INRAE-UVSQ-ENVA, Montigny-le-bretonneux, France.; Doco-Fenzy M; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Service de génétique médicale, CHU de Nantes, Nantes, France.; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Jouret G; Department of Genetics, Reims University Hospital, Reims, France.; National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg.; Egloff M; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.; Landais E; Department of Genetics, Reims University Hospital, Reims, France.; Tassy O; IGBMC, Strasbourg, France.; Giuliano F; Department of Genetics, Nice University Hospital, Nice, France.; Karmous-Benailly H; Department of Genetics, Nice University Hospital, Nice, France.; Coutton C; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; Satre V; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; Devillard F; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; Dieterich K; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; Vieville G; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; Kuentz P; Génétique Biologique, PCBio, Besançon University Hospital, Besançon, France.; le Caignec C; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; Department of Genetics, Nantes University Hospital, Nantes, France.; Beneteau C; Department of Genetics, Nantes University Hospital, Nantes, France.; Isidor B; Department of Genetics, Nantes University Hospital, Nantes, France.; Nizon M; Department of Genetics, Nantes University Hospital, Nantes, France.; Callier P; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; Department of Genetics, Dijon University Hospital, Dijon, France.; Marquet V; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; Department of Genetics, Limoges University Hospital, Limoges, France.; Bieth E; Department of Genetics, Toulouse University Hospital, Toulouse, France.; Lévy J; Department of Genetics, Robert-Debré University Hospital, Paris, France.; Tabet AC; Department of Genetics, Robert-Debré University Hospital, Paris, France.; Lyonnet S; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.; INSERM U-1163, Université de Paris, Paris, France.; Baujat G; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.; Rio M; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.; Cartault F; Department of Genetics, La Réunion University Hospital, Saint Denis, France.; Scheidecker S; Strasbourg University Hospital, Strasbourg, France.; Gouronc A; Strasbourg University Hospital, Strasbourg, France.; Schalk A; Strasbourg University Hospital, Strasbourg, France.; Jacquin C; Department of Genetics, Reims University Hospital, Reims, France.; Spodenkiewicz M; Department of Genetics, Reims University Hospital, Reims, France.; Angélini C; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Pennamen P; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Rooryck C; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Doco-Fenzy M; Department of Genetics, Reims University Hospital, Reims, France.; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; EA3801, SFR CAPSANTE, Reims, France.; Poirsier C; Department of Genetics, Reims University Hospital, Reims, France.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Leblond CS; Human Genetics and Cognitive Functions, Institut Pasteur, CNRS UMR3571, Institut Universitaire de France, Université Paris Cité, Paris, France; email: thomas.bourgeron@pasteur.fr.; Rolland T; Human Genetics and Cognitive Functions, Institut Pasteur, CNRS UMR3571, Institut Universitaire de France, Université Paris Cité, Paris, France; email: thomas.bourgeron@pasteur.fr.; Barthome E; Human Genetics and Cognitive Functions, Institut Pasteur, CNRS UMR3571, Institut Universitaire de France, Université Paris Cité, Paris, France; email: thomas.bourgeron@pasteur.fr.; Mougin Z; Human Genetics and Cognitive Functions, Institut Pasteur, CNRS UMR3571, Institut Universitaire de France, Université Paris Cité, Paris, France; email: thomas.bourgeron@pasteur.fr.; Fleury M; Human Genetics and Cognitive Functions, Institut Pasteur, CNRS UMR3571, Institut Universitaire de France, Université Paris Cité, Paris, France; email: thomas.bourgeron@pasteur.fr.; Ecker C; Department of Child and Adolescent Psychiatry, University Hospital of the Goethe University, Frankfurt am Main, Germany.; Bonnot-Briey S; Fédération AUTOP-H, Paris, France.; Cliquet F; Human Genetics and Cognitive Functions, Institut Pasteur, CNRS UMR3571, Institut Universitaire de France, Université Paris Cité, Paris, France; email: thomas.bourgeron@pasteur.fr.; Tabet AC; Human Genetics and Cognitive Functions, Institut Pasteur, CNRS UMR3571, Institut Universitaire de France, Université Paris Cité, Paris, France; email: thomas.bourgeron@pasteur.fr.; Department of Genetics, Cytogenetics Unit, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Maruani A; Human Genetics and Cognitive Functions, Institut Pasteur, CNRS UMR3571, Institut Universitaire de France, Université Paris Cité, Paris, France; email: thomas.bourgeron@pasteur.fr.; Department of Child and Adolescent Psychiatry, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Chaumette B; Department of Psychiatry, McGill University, Montreal, Quebec, Canada.; Groupe Hospitalier Universitaire-Paris Psychiatry and Neurosciences, Hôpital Sainte Anne, Paris, France.; Human Genetics and Cognitive Functions, Institut Pasteur, CNRS UMR3571, Institut Universitaire de France, Université Paris Cité, Paris, France; email: thomas.bourgeron@pasteur.fr.; Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Université Paris Cité, Paris, France.; Green J; Division of Psychology and Mental Health, University of Manchester and Royal Manchester Children's Hospital, Manchester, United Kingdom.; Delorme R; Human Genetics and Cognitive Functions, Institut Pasteur, CNRS UMR3571, Institut Universitaire de France, Université Paris Cité, Paris, France; email: thomas.bourgeron@pasteur.fr.; Department of Child and Adolescent Psychiatry, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Bourgeron T; Human Genetics and Cognitive Functions, Institut Pasteur, CNRS UMR3571, Institut Universitaire de France, Université Paris Cité, Paris, France; email: thomas.bourgeron@pasteur.fr.

Publisher: Annual Reviews Country of Publication: United States NLM ID: 0117605 Publication Model: Print Cited Medium: Internet ISSN: 1545-2948 (Electronic) Linking ISSN: 00664197 NLM ISO Abbreviation: Annu Rev Genet Subsets: MEDLINE

Fiot E; Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 48 Bd Sérurier, 75019, Paris, France.; Alauze B; Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 48 Bd Sérurier, 75019, Paris, France.; Donadille B; Department of Reproductive Endocrinology, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.; Samara-Boustani D; Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University Hospital, 75015, Paris, France.; Houang M; Explorations Fonctionnelles Endocriniennes, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Armand-Trousseau Hospital, 75012, Paris, France.; De Filippo G; Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 48 Bd Sérurier, 75019, Paris, France.; Bachelot A; Endocrinology and Reproductive Medicine Department, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Pitié Salpétrière University Hospital, 75013, Paris, France.; Delcour C; Department of Obstetrics and Gynecology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.; Beyler C; Cardiopaediatric Unit, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.; Bois E; Pediatric Otorhinolaryngology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.; Bourrat E; Dermatology Unit, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.; Bui Quoc E; Ophthalmology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.; Bourcigaux N; Department of Reproductive Endocrinology, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.; Chaussain C; Odontology Department, Assistance Publique-Hôpitaux de Paris, University Hospitals Charles Foix, PNVS, and Henri Mondor, 94000, Créteil, France.; Cohen A; Department of Cardiology, GRC n°27, GRECO, AP-HP, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.; Cohen-Solal M; Department of Rheumatology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Lariboisière Hospital, 75010, Paris, France.; Da Costa S; Reference Center for Rare Gynecological Pathologies, Pediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University Hospital, 75015, Paris, France.; Dossier C; Department of Paediatric Nephrology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.; Ederhy S; Department of Cardiology, GRC n°27, GRECO, AP-HP, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.; Elmaleh M; Department of Radiology, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.; Iserin L; Adult Congenital Heart Disease Unit, Cardiology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Georges Pompidou University Hospital, 75015, Paris, France.; Lengliné H; Department of Pediatric Gastroenterology and Nutrition, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.; Poujol-Robert A; Hepatology Department, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.; Roulot D; Hepatology Department, Assistance Publique-Hopitaux de Paris, Université Sorbonne Paris Nord, Avicenne Hospital, 93009, Bobigny, France.; Viala J; Department of Pediatric Gastroenterology and Nutrition, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.; Albarel F; Department of Endocrinology, Assistance Publique-Hôpitaux de Marseille. Hospital La Conception, 13005, Marseille, France.; Bismuth E; Department of Pediatric Endocrinology and Diabetology, Competence Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.; Bernard V; CHU Pellegrin, Department of Gynecological Surgery, Medical Gynecology and Reproductive Medicine, Centre Aliénor d'aquitaine, Bordeaux University Hospitals, 33000, Bordeaux, France.; Bouvattier C; Paediatric Endocrinology Department, Reference Center for Rare Genital Development Disorders, Assistance Publique-Hôpitaux de Paris, Kremlin-Bicêtre University Hospital, Paris-Sud University, 94270, Le Kremlin-Bicêtre, France.; Brac A; Department of Endocrinology Pediatric and Adult, Reference Center for Rare Genital Development Disorders, Lyon Hospices Civils, Est Hospital Group, 69677, Bron, France.; Bretones P; Department of Endocrinology Pediatric and Adult, Reference Center for Rare Genital Development Disorders, Lyon Hospices Civils, Est Hospital Group, 69677, Bron, France.; Chabbert-Buffet N; Gynecology-Obstetrics and Reproductive Medicine Department, Assistance Publique-Hôpitaux de Paris, Tenon University Hospital, 75020, Paris, France.; Chanson P; Department of Endocrinology and Reproductive Diseases, Assistance Publique-Hôpitaux de Paris, Kremlin-Bicêtre University Hospital, Paris-Sud University, 94270, Le Kremlin-Bicêtre, France.; Coutant R; Department of Pediatric Endocrinology and Diabetology and Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, Angers University Hospital, 49100, Angers, France.; de Warren M; AGAT, French Turner Syndrome Association (AGAT; Association Des Groupes Amitié Turner), 75011, Paris, France.; Demaret B; Grandir Association (French Growth Disorders Association), 92600, Asnières-sur-Seine, France.; Duranteau L; Adolescent and Young Adult Gynecology Unit, Reference Center for Rare Genital Development Disorders, Assistance Publique-Hôpitaux de Paris, Kremlin-Bicêtre University Hospital, Paris-Sud University, 94270, Le Kremlin-Bicêtre, France.; Eustache F; Reproductive Biology Department, Assistance Publique-Hôpitaux de Paris, Jean Verdier University Hospital, 93140, Bondy, France.; Gautheret L; Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 48 Bd Sérurier, 75019, Paris, France.; Gelwane G; Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 48 Bd Sérurier, 75019, Paris, France.; Gourbesville C; Department of Endocrinology and Metabolic Diseases, Caen University Hospital, 14000, Caen, France.; Grynberg M; Department of Reproductive Medicine and Fertility Preservation, Assistance Publique-Hôpitaux de Paris, Antoine Béclère University Hospital, 92140, Clamart, France.; Gueniche K; Reference Center for Rare Gynecological Pathologies, Pediatric Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University Hospital, 75015, Paris, France.; Jorgensen C; Endocrinology and Metabolism Department, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.; Kerlan V; Endocrinology and Metabolism Department, Brest University Hospital Centre, 29200, Brest, France.; Lebrun C; Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 48 Bd Sérurier, 75019, Paris, France.; Lefevre C; Pediatric Endocrinology, Lille University Jeanne de Flandre Hospital, 59000, Lille, France.; Lorenzini F; Department of Endocrinology, Toulouse University Paule Viguier Hospital, 31300, Toulouse, France.; Manouvrier S; Clinical Genetics Department, DEV GEN Genital Development Reference Center, Lille University Jeanne de Flandre Hospital, 59000, Lille, France.; Pienkowski C; Genetics and Medical Gynecology Department, Reference Center for Rare Gynecological Pathologies, Toulouse University Hospitals - Hôpital Des Enfants, Pediatrics - Endocrinology, 31059, Toulouse, France.; Reynaud R; Department of Multidisciplinary Pediatrics, Reference Center for Pituitary Rare Diseases Aix Marseille University, Assistance Publique-Hôpitaux de Marseille, Hôpital de La Timone Enfants, 13005, Marseille, France.; Reznik Y; Department of Endocrinology and Metabolic Diseases, Caen University Hospital, 14000, Caen, France.; Siffroi JP; Genetics and Embryology Department, Sorbonne Université; INSERM UMRS-933, Assistance Publique-Hôpitaux de Paris, Hôpital d'Enfants Armand-Trousseau, Paris, France.; Tabet AC; Genetics Department, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 75019, Paris, France.; Tauber M; Genetics and Medical Gynecology Department, Toulouse University Hospital - Hôpital Des Enfants, Pediatrics - Endocrinology, 31059, Toulouse, France.; Vautier V; Pediatric Diabetology Department, Bordeaux University Hospitals, 33000, Bordeaux, France.; Tauveron I; Clermont-Ferrand University Hospital, Endocrinology Department, Clermont Auvergne University, 63000, Clermont-Ferrand, France.; Wambre S; French Turner Syndrome Association (Turner Et Vous Association), 59155, Faches-Thumesnil, France.; Zenaty D; Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 48 Bd Sérurier, 75019, Paris, France.; Netchine I; Explorations Fonctionnelles Endocriniennes, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Armand-Trousseau Hospital, 75012, Paris, France.; Polak M; Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Université de Paris, Necker Enfants Malades University Hospital, 75015, Paris, France.; Touraine P; Endocrinology and Reproductive Medicine Department, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Pitié Salpétrière University Hospital, 75013, Paris, France.; Carel JC; Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 48 Bd Sérurier, 75019, Paris, France.; Christin-Maitre S; Department of Reproductive Endocrinology, Reference Center for Rare Growth and Development Endocrine Diseases, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Saint Antoine Hospital, 75012, Paris, France.; Léger J; Pediatric Endocrinology-Diabetology Department, Reference Center for Rare Growth and Development Endocrine Diseases, INSERM NeuroDiderot, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert Debré University Hospital, 48 Bd Sérurier, 75019, Paris, France. juliane.leger@aphp.fr.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Cogan G; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Maruani A; Department of Child and Adolescent Psychiatry, Robert Debré Hospital, APHP, Paris, France.; Maillard A; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Dupont C; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Drunat S; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; INSERM U1141, Robert-Debré University Hospital, Paris, France.; Rachid M; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Atzori P; Department of Child and Adolescent Psychiatry, Robert Debré Hospital, APHP, Paris, France.; Delorme R; Department of Child and Adolescent Psychiatry, Robert Debré Hospital, APHP, Paris, France.; Jeyarajah S; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Pichon O; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Moradkhani K; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Verloes A; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; INSERM U1141, Robert-Debré University Hospital, Paris, France.; Tabet AC; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Neuroscience Department, Human Genetics and Cognitive Function Unit, Pasteur Institute, Paris, France.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Lesieur-Sebellin M; Service de Médecine Génomique des Maladies Rares, APHP-Centre, Hôpital Necker-Enfants Malades, Paris, France.; Faculté de Médecine, Sorbonne Université, Paris, France.; Till M; Laboratoire de Cytogénétique, service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, Bron, France.; Khau Van Kien P; UF de Cytogénétique et Génétique Médicale, Hôpital Caremeau, Nîmes, France.; Herve B; Département de Génétique, CHI Poissy Saint-Germain, Saint-Germain, France.; Université Paris-Saclay, UVSQ, INRAE, BREED, Jouy-en-Josas, France.; Bourgon N; Service d'Obstétrique et de Médecine Fœtale, APHP-Centre, Hôpital Necker-Enfants Malades, Paris, France.; Dupont C; Département de Génétique, Unité de Cytogénétique, Hôpital Robert Debré, APHP Nord, Paris, France.; Tabet AC; Département de Génétique, Unité de Cytogénétique, Hôpital Robert Debré, APHP Nord, Paris, France.; Génétique Humaine et Fonctions Cognitives, Institut Pasteur, UMR3571 CNRS, Université de Paris, Paris, France.; Barrois M; Maternité Port Royal, APHP Centre, Hôpital Cochin, Paris, France.; Coussement A; Service des Maladies Génétiques de système et d'organes, APHP-Centre, Hôpital Cochin, Paris, France.; Loeuillet L; Service de Médecine Génomique des Maladies Rares, APHP-Centre, Hôpital Necker-Enfants Malades, Paris, France.; Mousty E; Service de Gynécologie Obstétrique, Hôpital Caremeau, Nîmes, France.; Ea V; UF de Cytogénétique et Génétique Médicale, Hôpital Caremeau, Nîmes, France.; El Assal A; Département de Gynécologie Obstétrique, CHI Poissy Saint-Germain, Saint-Germain, France.; Mary L; Service d'Anatomie Pathologique, CHU Rennes, Rennes, France.; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France.; Jaillard S; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France.; INSERM, EHESP, IRSET, Université Rennes 1, Rennes, France.; Beneteau C; Service de Génétique Médicale, CHU Nantes, Nantes, France.; UF de Fœtopathologie et Génétique, CHU de Nantes, Nantes, France.; Le Vaillant C; Service de Gynécologie et Obstétrique, CHU Nantes, Nantes, France.; Coutton C; Service de Génétique, Génomique et Procréation, Hôpital Couple Enfant, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institut pour l'Avancée des Biosciences, Equipe Génétique, Epigénétique et Thérapies de l'infertilité, Grenoble, France.; Devillard F; Service de Génétique, Génomique et Procréation, Hôpital Couple Enfant, CHU Grenoble Alpes, Grenoble, France.; Goumy C; Cytogénétique Médicale, CHU Clermont-Ferrand, CHU Estaing, Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont-Ferrand, France.; Delabaere A; Unité de Médecine Fœtale, CHU Estaing, Clermont-Ferrand, France.; Redon S; CHU Brest, Inserm, Université de Brest, Brest, France.; Laurent Y; Service de Gynécologie et Obstétrique, GHBS Lorient, Lorient, France.; Lamouroux A; Service de Génétique Clinique, CHU Montpellier, Université de Montpellier, Montpellier, France.; Service de Gynécologie Obstétrique, CHU Nîmes, Université de Montpellier, Nîmes, France.; Massardier J; Service de Gynécologie et Obstétrique, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Bron, France.; Turleau C; Service de Médecine Génomique des Maladies Rares, APHP-Centre, Hôpital Necker-Enfants Malades, Paris, France.; Sanlaville D; Laboratoire de Cytogénétique, service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, Bron, France.; Cantagrel V; Université de Paris, Institut Imagine, Laboratoire de génétique des troubles du neurodéveloppement, Paris, France.; Université de Paris, Paris, France.; Sonigo P; Service de Radiologie Pédiatrique, APHP-Centre, Hôpital Necker-Enfants Malades, Paris, France.; Vialard F; Département de Génétique, CHI Poissy Saint-Germain, Saint-Germain, France.; Université Paris-Saclay, UVSQ, INRAE, BREED, Jouy-en-Josas, France.; Salomon LJ; Service d'Obstétrique et de Médecine Fœtale, APHP-Centre, Hôpital Necker-Enfants Malades, Paris, France.; Université de Paris, Paris, France.; Malan V; Service de Médecine Génomique des Maladies Rares, APHP-Centre, Hôpital Necker-Enfants Malades, Paris, France.; Université de Paris, Institut Imagine, Laboratoire de génétique des troubles du neurodéveloppement, Paris, France.; Université de Paris, Paris, France.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Loureiro LO; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Howe JL; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Reuter MS; Canada's Genomics Enterprise (CGEn), The Hospital for Sick Children, Toronto, ON, Canada.; Iaboni A; Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada.; Calli K; Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.; Roshandel D; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Pritišanac I; Program in Molecular Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Cell & Systems Biology, University of Toronto, Toronto, ON, Canada.; Moses A; Department of Cell & Systems Biology, University of Toronto, Toronto, ON, Canada.; Forman-Kay JD; Program in Molecular Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.; Trost B; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Zarrei M; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Rennie O; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Lau LYS; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; Srivastava S; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Godlewski B; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Buttermore ED; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Sahin M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Hartley D; Autism Speaks, New York, NY, USA.; Frazier T; Autism Speaks and Department of Psychology, John Carroll University, Cleveland, OH, USA.; Vorstman J; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.; Department of Psychiatry, The Hospital for Sick Children, Toronto, ON, Canada.; Georgiades S; Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON, Canada.; Lewis SME; Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.; Szatmari P; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.; Department of Psychiatry, The Hospital for Sick Children, Toronto, ON, Canada.; Centre for Addiction and Mental Health, Toronto, ON, Canada.; Bradley CAL; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Tabet AC; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris, F-75015, Paris, France.; Genetics Department, Cytogenetic Unit, Robert Debré Hospital, APHP, F-75019, Paris, France.; Willems M; Service de Génétique clinique, CH de Chambéry, Chambéry, France.; Lumbroso S; Biochimie et Biologie Moléculaire, CHU Nimes, Univ. Montpellier, Nimes, France.; Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique, UMR7104, Institut National de la Santé et de la Recherche Médicale, U964, Université de Strasbourg, Illkirch, France.; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.; Institut Universitaire de France, Paris, France.; Lespinasse J; Service de Génétique clinique, CH de Chambéry, Chambéry, France.; Delorme R; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris, F-75015, Paris, France.; Child and Adolescent Psychiatry Department, Robert Debré Hospital, APHP, F-75019, Paris, France.; Bourgeron T; Human Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris, F-75015, Paris, France.; Anagnostou E; Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.; Scherer SW; Genetics and Genome Biology and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada. stephen.scherer@sickkids.ca.; Department of Molecular Genetics and the McLaughlin Centre, University of Toronto, Toronto, ON, Canada. stephen.scherer@sickkids.ca.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Lévy J; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Schell B; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Nasser H; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Rachid M; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Ruaud L; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Université de Paris Medical School, Paris, France.; INSERM UMR1141, Paris University, APHP, Robert-Debré Hospital, Paris, France.; Couque N; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Callier P; Centre de Génétique et Centre de référence 'Anomalies du Développement et Syndromes Malformatifs', Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, France.; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Faivre L; Centre de Génétique et Centre de référence 'Anomalies du Développement et Syndromes Malformatifs', Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Marle N; Laboratoire de Génétique Chromosomique et Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, France.; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Engwerda A; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.; van Ravenswaaij-Arts CMA; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.; Plutino M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice, Nice, France.; Karmous-Benailly H; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice, Nice, France.; Benech C; Etablissement Français du Sang, Brest, France.; Redon S; Laboratoire de Génétique Moléculaire et Histocompatibilité, Service de Génétique Médicale, CHRU, Brest, France.; Boute O; CHU Lille, Clinique de Génétique 'Guy Fontaine', Lille, France.; Boudry Labis E; CHU Lille, Institut de Génétique Médicale, Lille, France.; Rama M; CHU Lille, Institut de Génétique Médicale, Lille, France.; Kuentz P; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Génétique Biologique, PCBio, Centre Hospitalier Universitaire de Besançon, Besançon, France.; Assoumani J; Clinical Investigation Center 1431, INSERM, Besançon, France.; Maldergem LV; Clinical Investigation Center 1431, INSERM, Besançon, France.; Center of Human Genetics, University of Franche-Comté, Besançon, France.; Dupont C; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Verloes A; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Université de Paris Medical School, Paris, France.; INSERM UMR1141, Paris University, APHP, Robert-Debré Hospital, Paris, France.; Tabet AC; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Neuroscience Department, Human Genetics and Cognitive Function Unit, Pasteur Institute, Paris, France.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE