부산대학교 도서관

E-REA, Vol 21, Iss 1 (2023)

Songmi Lee; Clint L. Miller; Amy R. Bentley; Michael R. Brown; Pavithra Nagarajan; Raymond Noordam; John L Morrison; Karen Schwander; Kenneth Westerman; Minjung Kho; Aldi T. Kraja; Paul S. de Vries; Farah Ammous; Hughes Aschard; Traci M. Bartz; Anh Do; Charles T. Dupont; Mary F. Feitosa; Valborg Gudmundsdottir; Xiuqing Guo; Sarah E. Harris; Keiko Hikino; Zhijie Huang; Christophe Lefevre; Leo-Pekka Lyytikäinen; Yuri Milaneschi; Giuseppe Giovanni Nardone; Aurora Santin; Helena Schmidt; Botong Shen; Tamar Sofer; Quan Sun; Ye An Tan; Jingxian Tang; Sébastien Thériault; Peter J. van der Most; Erin B. Ware; Stefan Weiss; Wang Ya Xing; Chenglong Yu; Wei Zhao; Md Abu Yusuf Ansari; Pramod Anugu; John R. Attia; Lydia A. Bazzano; Joshua C. Bis; Max Breyer; Brian Cade; Guanjie Chen; Stacey Collins; Janie Corley; Gail Davies; Marcus Dörr; Jiawen Du; Todd L. Edwards; Tariq Faquih; Jessica D. Faul; Alison E. Fohner; Amanda M. Fretts; Srushti Gangireddy; Adam Gepner; MariaElisa Graff; Edith Hofer; Georg Homuth; Michelle M. Hood; Xu Jie; Mika Kähönen; Sharon L.R. Kardia; Carrie A. Karvonen-Gutierrez; Lenore J. Launer; Daniel Levy; Maitreiyi Maheshwari; Lisa W. Martin; Koichi Matsuda; John J. McNeil; Ilja M. Nolte; Tomo Okochi; Laura M. Raffield; Olli T. Raitakari; Lorenz Risch; Martin Risch; Ana Diez Roux; Edward A. Ruiz-Narvaez; Tom C. Russ; Takeo Saito; Pamela J. Schreiner; Rodney J. Scott; James Shikany; Jennifer A. Smith; Harold Snieder; Beatrice Spedicati; E. Shyong Tai; Adele M. Taylor; Kent D. Taylor; Paola Tesolin; Rob M. van Dam; Rujia Wang; Wei Wenbin; Tian Xie; Jie Yao; Kristin L. Young; Ruiyuan Zhang; Alan B. Zonderman; Maria Pina Concas; David Conen; Simon R. Cox; Michele K. Evans; Ervin R. Fox; Lisa de las Fuentes; Ayush Giri; Giorgia Girotto; Hans J. Grabe; Charles Gu; Vilmundur Gudnason; Sioban D. Harlow; Elizabeth Holliday; Jonas B. Jost; Paul Lacaze; Seunggeun Lee; Terho Lehtimäki; Changwei Li; Ching-Ti Liu; Alanna C. Morrison; Kari E. North; Brenda W.J.H. Penninx; Patricia A. Peyser; Michael M. Province; Bruce M. Psaty; Susan Redline; Frits R. Rosendaal; Charles N. Rotimi; Jerome I. Rotter; Reinhold Schmidt; Xueling Sim; Chikashi Terao; David R. Weir; Xiaofeng Zhu; Nora Franceschini; Jeffrey R. O’Connell; Cashell E. Jaquish; Heming Wang; Alisa Manning; Patricia B. Munroe; Dabeeru C. Rao; Han Chen; W. James Gauderman; Laura J Bierut; Thomas W. Winkler; Myriam Fornage

HGG Advances, Vol 7, Iss 2, Pp 100566- (2026)

Chapleau, Alexandra; Le, Adam; Simo, Justin; Venkateswaran, Sunita; Lacaze-Masmonteil, Thierry; Piscopo, Valerio E. C.; Gauthier, Samuel; Villa Tobón, Felipe; Alam, Sabrina Shameen; Lentini, Laura; Brais, Bernard; Ernst, Carl; Mitchell, John J.; Vinh, Donald C.; Zhou, Yang; Kennedy, Timothy E.; Goloff, Naomi; Riham, Badawy; Chapleau, Ron; Smith, Ben; Greger, Valerie; Della Rocca, Josée; Louis, Lynda-Marie; Dike, Ashley; McIntyre, Lindey L.; McIntyre, David F.; Tardif, Jérome; Lapointe, Émilie; Barnett, Jennifer; Loignon, Valérie; Bardai, Ghalib; Contant, Sophie; Durcan, Thomas M.; La Piana, Roberta; Bernard, Geneviève

Neurology Genetics. Oct 23, 2025 11(6)

Jaime Cesar Coelho; Laura Mabel Lacaze

Lua Nova: Revista de Cultura e Política, Iss 111, Pp 249-273 (2021)

Magdalena Sevilla-González; Kirk Smith; Ningyuan Wang; Aubrey E. Jensen; Elizabeth M. Litkowski; Hyunkyung Kim; Daniel A. DiCorpo; Sarah Hsu; Jinrui Cui; Ching-Ti Liu; Chenglong Yu; John J. McNeil; Paul Lacaze; Kenneth E. Westerman; Kyong-Mi Chang; Philip S. Tsao; Lawrence S. Phillips; Mark O. Goodarzi; Rob Sladek; Jerome I. Rotter; Josée Dupuis; Jose C. Florez; Jordi Merino; James B. Meigs; Jin J. Zhou; Sridharan Raghavan; Miriam S. Udler; Alisa K. Manning

Nature Communications, Vol 16, Iss 1, Pp 1-12 (2025)

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BMC Medical Research Methodology, Vol 24, Iss 1, Pp 1-14 (2024)

E-REA, Vol 21, Iss 1 (2023)

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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

Aamira J. Huq; Brian Fulton‐Howard; Moeen Riaz; Simon Laws; Robert Sebra; Joanne Ryan; Alzheimer's Disease Genetics Consortium; Alan E. Renton; Alison M. Goate; Colin L. Masters; Elsdon Storey; Raj C. Shah; Anne Murray; John McNeil; Ingrid Winship; Paul A. James; Paul Lacaze

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)

A. Gori; C. Orejas; T. Madurell; L. Bramanti; M. Martins; E. Quintanilla; P. Marti-Puig; C. Lo Iacono; P. Puig; S. Requena; M. Greenacre; J. M. Gili

Biogeosciences, Vol 10, Iss 3, Pp 2049-2060 (2013)

Mayra Aiello Corrêa de Oliveira; Luana Lacaze de Camargo Casella

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Durizot M; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Burglen L; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau, Paris, France; Department of Clinical Genetics, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Armand-Trousseau, Paris, France.; Garel C; APHP Sorbonne Université, Service de Radiologie, Hôpital Trousseau, Paris, France.; Blondiaux E; APHP Sorbonne Université, Service de Radiologie, Hôpital Trousseau, Paris, France.; Riquet A; Département de Neuropédiatrie, GHICL Université Catholique de Lille, Hôpital Saint Vincent de Paul, Lille, France.; Floret V; CHU de Lille, Service de Neuropédiatrie, Hôpital Salengro, Lille, France.; Desportes V; Centre de Référence des Maladies Rares et Déficience Intellectuelle, HCL Université de Lyon, Service de Neuropédiatrie HFME, Lyon, France.; Häänpaa M; Clinical Genetics, Turku University Hospital, Turku, Southwest Finland, Finland.; Valenzuela MI; Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Catalonia, Spain.; Pinto AM; Clinical Genetics, Policlinico Le Scotte - University Hospital of Siena, Siena, Tuscany, Italy.; Renieri A; Medical Genetics, University of Siena, Siena, Italy; Department of Medical Biotechnologies, Med Biotech Hub and Computer Center, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Vanneste M; Clinical Genetics, University Hospitals Leuven, Leuven, Flemish Brabant, Belgium.; Devriendt K; Clinical Genetics, University Hospitals Leuven, Leuven, Flemish Brabant, Belgium.; de Waele L; Neuropediatry, University Hospitals Leuven, Leuven, Flemish Brabant, Belgium.; Guilbaud L; Service de Médecine fœtale, APHP Sorbonne Université, Hôpital Trousseau, Paris, France.; Jouannic JM; Service de Médecine fœtale, APHP Sorbonne Université, Hôpital Trousseau, Paris, France.; Harion M; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Billette de Villemeur T; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Rodriguez D; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Lacaze E; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.; Milh M; Service de Neurologie Pédiatrique, APHM Aix-Marseille Université, Hôpital de la Timone-Enfants, Marseille, France.; Cloarec R; Centre de Référence Déficiences Intellectuelles et Polyhandicap de causes Rares, APHM Aix-Marseille Université, Hôpital de la Timone-Enfants, Marseille, France.; Afenjar A; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau, Paris, France; Department of Clinical Genetics, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Armand-Trousseau, Paris, France.; Héron D; Département de Génétique, APHP Sorbonne Université, Hôpital Pitié Salpétrière, Paris, France; Department of Pediatric Neurology, Centre de référence Deficiences Intellectuelles de causes rares, Paris, France.; Mignot C; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau, Paris, France; Department of Pediatric Neurology, Centre de référence Deficiences Intellectuelles de causes rares, Paris, France.; Valence S; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France; Department of Pediatric Neurology, Centre de référence Deficiences Intellectuelles de causes rares, Paris, France. Electronic address: stephanie.valence@aphp.fr.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE