부산대학교 도서관

Raynor A; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France.; Vincent-Delorme C; Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.; Alaix AS; Fondation Elan Retrouvé, Université de Paris-Sorbonne Paris Cité, Imagine Institute, INSERM UMR1163, Paris, France.; Cholet S; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé (DMTS), MetaboHUB, F-91191 Gif sur Yvette, France.; Dupré T; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France.; Vuillaumier-Barrot S; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France.; Fenaille F; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé (DMTS), MetaboHUB, F-91191 Gif sur Yvette, France.; Besmond C; Université de Paris-Sorbonne Paris Cité, Imagine Institute, INSERM UMR1163, Paris, France.; Bruneel A; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France; INSERM UMR1193, Mécanismes cellulaires et moléculaires de l'adaptation au stress et cancérogenèse, Université Paris-Sud, Châtenay-Malabry, France. Electronic address: arnaud.bruneel@aphp.fr.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE

Hashimoto Y; Smurfit Institute of Genetics, Trinity College Dublin, D02 VF25, Dublin, Ireland.; Besmond C; INSERM UMR1163, Institut Imagine, Paris University, F-75015, Paris, France.; Clinical Genetics Department, Necker Hospital, APHP Centre-Paris University, F-75015, Paris, France.; Boddaert N; INSERM UMR1163, Institut Imagine, Paris University, F-75015, Paris, France.; Department of Pediatric Radiology, Hospital Necker Enfants Malades, F-75015, Paris, France.; Munnich A; INSERM UMR1163, Institut Imagine, Paris University, F-75015, Paris, France.; Clinical Genetics Department, Necker Hospital, APHP Centre-Paris University, F-75015, Paris, France.; Campbell M; Smurfit Institute of Genetics, Trinity College Dublin, D02 VF25, Dublin, Ireland.; FutureNeuro, Science Foundation Ireland Research Centre for Chronic and Rare Neurological Diseases, Royal College of Surgeons in Ireland, University of Medicine and Health Sciences, Dublin, Ireland.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Broenen, E.; Ranchin, B.; Besmond, C.; Freychet, C.; Fouilhoux, A.; Perouse de Montclos, T.; Ville, D.; Bacchetta, J.

Archives de Pédiatrie. 26:377-380

Xu, M; Xie, YA; Abouzeid, H; Gordon, CT; Fiorentino, A; Sun, Z; Lehman, A; Osman, IS; Dharmat, R; Riveiro-Alvarez, R; Bapst-Wicht, L; Babino, D; Arno, G; Busetto, V; Zhao, L; Li, H; Lopez-Martinez, MA; Azevedo, LF; Hubert, L; Pontikos, N; Eblimit, A; Lorda-Sanchez, I; Kheir, V; Plagnol, V; Oufadem, M; Soens, ZT; Yang, L; Bole-Feysot, C; Pfundt, R; Allaman-Pillet, N; Nitschké, P; Cheetham, ME; Lyonnet, S; Agrawal, SA; Pinton, G; Michaelides, M; Besmond, C; Li, Y; Yuan, Z; von Lintig, J; Webster, AR; Le Hir, H; Stoilov, P; Amiel, J; Hardcastle, AJ; Ayuso, C; Sui, R; Chen, R; Allikmets, R; Schorderet, DF; Black, G; Hall, G; Gillespie, R; Ramsden, S; Manson, F; Sergouniotis, P; Inglehearn, C; Toomes, C; Ali, M; McKibbin, M; Poulter, J; Lord, E; Nemeth, A; Halford, S; Downes, S; Yu, J

American Journal of Human Genetics, 100, 4, pp. 592-604
American Journal of Human Genetics, vol 100, iss 4

Demily, C. ; Assouline, M. ; Boddaert, N. ; Barcia, G. ; Besmond, C. ; Poisson, A. ; Sanlaville, D. ; Munnich, A.

In Neuropsychiatrie de l'enfance et de l'adolescence October 2016 64(6):395-401

Barcia G; Department of Genetics, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, Paris, France. Electronic address: giulia.barcia@aphp.fr.; Scorrano G; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, Paris, France.; Rio M; Department of Genetics, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, Paris, France.; Gitiaux C; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, Paris, France.; Hully M; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, Paris, France.; Poirier K; Translational Genetics, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, University of Paris, Paris, France.; Besmond C; Translational Genetics, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, University of Paris, Paris, France.; Munnich A; Department of Genetics, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, Paris, France.; Boddaert N; Department of Pediatric Radiology, Necker Enfants Malades Hospital, AP-HP, Université Paris Cité, Paris, France.; Chemaly N; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, Paris, France.; Nabbout R; Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Université Paris Cité, Paris, France; Imagine Institute, Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Paris, France.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Guilmeau, Sandra; Niot, I.; Laigneau, J.; Devaud, H.; Petit, V.; Brousse, N.; Bouvier, R.; Ferkdadji, L.; Besmond, C.; Aggerbeck, L.; Bado, A.; Samson-Bouma, M.

Histochemistry and Cell Biology. 128:115-123

Prevost, G; Fajardy, I; Besmond, C; Balkau, B; Tichet, J; Fontaine, P; Danze, PM; Marre, M

Diabetes and Metabolism. 31(1):35-39

Schänzer A; Institute of Neuropathology, Justus-Liebig-University, Giessen, Germany.; Achleitner MT; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Trümbach D; Institute of Developmental Genetics, Helmholtz Center, Munich, Germany.; Institute of Metabolism and Cell Death, Helmholtz Center, Munich, Germany.; Hubert L; Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France.; Munnich A; Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France.; Ahlemeyer B; Institute for Anatomy and Cell Biology, Division of Medical Cell Biology, Justus Liebig University, Giessen, Germany.; AlAbdulrahim MM; King Abdullah Bin Abdulaziz University Hospital, Riyadh, Saudi Arabia.; Greif PA; Experimental Leukemia and Lymphoma Research Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.; Vosberg S; Experimental Leukemia and Lymphoma Research Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.; German Cancer Research Centre (DKFZ), Heidelberg, Germany.; Hummer B; Molecular and Cellular Biophysics Program, Department of Biological Sciences, University of Denver, Denver, CO, USA.; Feichtinger RG; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.; Aichner H; Department of Pediatrics, Academic Teaching Hospital, Landeskrankenhaus Feldkirch, Feldkirch, Austria.; Rudnik-Schöneborn S; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, 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.; Sánchez JP; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.; Ellard S; Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.; College of Medicine and Health, University of Exeter, Exeter, UK.; Homfray T; Saint George's University Hospital and Royal Brompton Hospital, London, UK.; Stals KL; Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.; Wurst W; Institute of Developmental Genetics, Helmholtz Center, Munich, Germany.; Chair of Developmental Genetics, Faculty of Life and Food Sciences Weihenstephan, Technische Universität München, Freising-Weihenstephan, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Ludwig-Maximilians-Universität, Munich, Germany.; Neubauer BA; Department of Child Neurology, Justus-Liebig-University, Giessen, Germany.; Acker T; Institute of Neuropathology, Justus-Liebig-University, Giessen, Germany.; Bohlander SK; Leukaemia and Blood Cancer Research Unit, Department of Molecular Medicine and Pathology, The University of Auckland, Auckland, New Zealand.; Asensio C; Molecular and Cellular Biophysics Program, Department of Biological Sciences, University of Denver, Denver, CO, USA.; Besmond C; Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; AlSayed MD; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Hahn A; Department of Child Neurology, Justus-Liebig-University, Giessen, Germany.; Weber A; Institute of Human Genetics, Justus-Liebig-University, Giessen, Germany.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Bar C; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Kuchenbuch M; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Barcia G; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; Schneider A; Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.; Jennesson M; Department of Pediatrics, American Memorial Hospital, Reims, France.; Le Guyader G; Department of Genetics, Poitiers University Hospital Center, Poitiers Cedex, France.; EA3808-NEUVACOD Neurovascular and Cognitive Disorders Unit, University of Poitiers, Poitiers, France.; Lesca G; Department of Genetics, Lyon Civil Hospices, Lyon, France.; NeuroMyoGène Institute, National Center for Scientific Research, Mixed Unit of Research 5310, National Institute of Health and Medical Research U1217, University of Lyon, Claude Bernard Lyon 1 University, Villeurbanne, France.; Mignot C; National Institute of Health and Medical Research, U1127, National Center for Scientific Research Mixed Unit of Research 7225, Pierre and Marie Curie University Paris 6 Mixed Unit of Research S1127, Brain and Spine Institute, Sorbonne University, Paris, France.; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.; Montomoli M; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy.; Parrini E; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy.; Isnard H; Pediatric Neurologist, Medical Office, Lyon, France.; Rolland A; Department of Pediatrics, Nantes University Hospital Center, Nantes, France.; Keren B; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.; Afenjar A; Department of Genetics and Medical Embryology, Reference Center for Malformations and Congenital Diseases of the Cerebellum and Rare Causes of Intellectual Disabilities, Sorbonne University, AP-HP, Trousseau Hospital, Paris, France.; Dorison N; Pediatric Neurosurgery Department, Rothschild Foundation Hospital, Paris, France.; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Sadleir LG; Department of Pediatrics and Child Health, University of Otago, Wellington, New Zealand.; Breuillard D; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Levy R; Department of Pediatric Radiology, Necker-Enfants Malades Hospital, Paris, France.; Rio M; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; Laboratory of Developmental Brain Disorders, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, Sorbonne University, Paris, France.; Dupont S; National Institute of Health and Medical Research, U1127, National Center for Scientific Research Mixed Unit of Research 7225, Pierre and Marie Curie University Paris 6 Mixed Unit of Research S1127, Brain and Spine Institute, Sorbonne University, Paris, France.; Epileptology Unit and Rehabilitation Unit, AP-HP, Pitie-Salpêtrière-Charles Foix Hospital, Paris, France.; Negrin S; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea, Treviso, Italy.; Danieli A; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea, Treviso, Italy.; Scalais E; Pediatric Neurology Unit, Luxembourg Hospital Center, Luxembourg City, Luxembourg.; De Saint Martin A; Department of Pediatric Neurology, Strasbourg University Hospital, Hautepierre Hospital, Strasbourg, France.; El Chehadeh S; Department of Medical Genetics, Strasbourg University Hospitals, Hautepierre Hospital, Strasbourg, France.; Chelly J; Department of Medical Genetics, Strasbourg University Hospitals, Hautepierre Hospital, Strasbourg, France.; Poisson A; GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, le Vinatier Hospital Center and EDR-Psy Team (National Center for Scientific Research and Lyon 1 Claude Bernard University), Villeurbanne, France.; Lebre AS; Reims University Hospital Center, Maison Blanche Hospital, Biology Department, Reims, France.; Nica A; Neurology Department, Center for Clinical Research (CIC 1414), Rennes University Hospital, Rennes, France.; Laboratory of Signal Processing, National Institute of Health and Medical Research Mixed Unit of Research 1099, Rennes, France.; Odent S; Reference Center for Rare Developmental Abnormalities CLAD-Ouest, Rennes University Hospital Center, Rennes, France.; National Center for Scientific Research Mixed Unit of Research 6290, Institute of Genetics and Development of Rennes (IGDR), University of Rennes, Rennes, France.; Sekhara T; Department of Pediatric Neurology, C.H.I.R.E.C, Brussels, Belgium.; Brankovic V; Clinic for Child Neurology and Psychiatry, Belgrade, Serbia.; Goldenberg A; Reference Center for Developmental Anomalies and Malformation Syndromes, Rouen University Hospital Center, Rouen, France.; Vrielynck P; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium.; Lederer D; Human Genetic Center, IPG, Gosselies, Belgium.; Maurey H; Department of Pediatric Neurology, AP-HP, Bicêtre University Hospital, Kremlin Bicêtre, France.; Terrone G; Department of Translational Medical Sciences, Section of Pediatrics, Child Neurology Unit, Federico II University, Naples, Italy.; Besmond C; Translational Genetics, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, University of Paris, Paris, France.; Hubert L; Translational Genetics, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, University of Paris, Paris, France.; Berquin P; Department of Pediatric Neurology, Amiens-Picardie University Hospital Center, University of Picardy Jules Verne, Amiens, France.; Billette de Villemeur T; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Isidor B; Department of Clinical Genetics, Nantes University Hospital Center, Nantes, France.; Freeman JL; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, United States.; Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, United States.; Howell KB; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Rodríguez-Sacristán Cascajo A; Pediatric Neurology Unit, Department of Pediatric, Virgen Macarena Hospital, Seville, Spain.; Department of Pediatrics, School of Medicine, University of Seville, Seville, Spain.; Meyer P; Department of Pediatric Neurology, Montpellier University Hospital Center, Montpellier, France.; PhyMedExp, National Institute of Health and Medical Research, U1046, National Center for Scientific Research Mixed Unit of Research 9214, University of Montpellier, Montpellier, France.; Genevieve D; Department of Medical Genetics, Rare Disease, and Personalized Medicine, IRMB, University of Montpellier, National Institute of Health and Medical Research, Montpellier University Hospital Center, Montpellier, France.; Guët A; Department of Pediatrics, Louis-Mourier Hospital, Colombes, France.; Doummar D; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Durigneux J; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; van Dooren MF; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; de Wit MCY; Department of Pediatric Neurology and ENCORE Expertise Center, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands.; Gerard M; Clinical Genetics, Côte de Nacre University Hospital Center, Caen, France.; Marey I; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.; Munnich A; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; Guerrini R; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy.; Scheffer IE; Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Florey Institute of Neurosciences and Mental Health, Heidelberg, Victoria, Australia.; Kabashi E; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Nabbout R; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Ceccherini, I; Lyonnet, S; Hofstra, RM; Chakravarti, A; Antinolo, G; Dopazo, J; Borrego, S; Enguix-Riego, M; Luzon-Toro, B; Bleda, M; Fernandez, RM; Garcia-Alonso, L; Arnold, S; Sribudiani, Y; Besmond, C; Lantieri, F; Torroglosa, A; Tam, PKH; Garcia-Barcelo, MM

Diaz J; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.; Gérard X; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France.; Emerit MB; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.; Areias J; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.; Geny D; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.; Dégardin J; INSERM UMR-S968, Institut de la vision, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris F-75012, Université Pierre et Marie Curie, France.; Simonutti M; INSERM UMR-S968, Institut de la vision, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris F-75012, Université Pierre et Marie Curie, France.; Guerquin MJ; CEA, DSV, IRCM, SCSR, Fontenay-Aux-Roses, France.; Collin T; Saint Pères Paris Institute for the Neurosciences CNRS - UMR 8003 Université de Paris, Paris 75006, France.; Viollet C; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.; Billard JM; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.; Métin C; INSERM, UMR-S1270, Institut du Fer à Moulin, Sorbonne Université, Paris F-75005, France.; Hubert L; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France.; Larti F; University of Social Welfare and Rehabilitation Sciences, Genetics Research Center, Tehran 19834, Iran.; Kahrizi K; University of Social Welfare and Rehabilitation Sciences, Genetics Research Center, Tehran 19834, Iran.; Jobling R; The Hospital for Sick Children, Molecular Genetics, Toronto, Canada.; Agolini E; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, 00146 Rome, Italy.; Shaheen R; King Faisal Specialist Hospital and Research Center, Developmental Genetics Unit, Riyadh 11211, Saudi Arabia.; Zigler A; CHU Angers, Génétique, France.; Rouiller-Fabre V; CEA, DSV, IRCM, SCSR, Fontenay-Aux-Roses, France.; Rozet JM; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France.; Picaud S; INSERM UMR-S968, Institut de la vision, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris F-75012, Université Pierre et Marie Curie, France.; Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, 00146 Rome, Italy.; Alameer S; Department of Pediatrics, King Khaled National Guard Hospital, King Abdulaziz Medical City, Jeddah, Saudi Arabia.; Najmabadi H; University of Social Welfare and Rehabilitation Sciences, Genetics Research Center, Tehran 19834, Iran.; Cohn R; The Hospital for Sick Children, Molecular Genetics, Toronto, Canada.; Munnich A; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France.; Barth M; CHU Angers, Génétique, France.; Lugli L; Division of Neonatal Intensive Care Unit, Department of Pediatrics, University Hospital, 41125 Modena, Italy.; Alkuraya FS; King Faisal Specialist Hospital and Research Center, Developmental Genetics Unit, Riyadh 11211, Saudi Arabia.; Blaser S; Division of Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Gashlan M; King Faisal Specialist Hospital and Research Center, Developmental Genetics Unit, Riyadh 11211, Saudi Arabia.; Besmond C; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France.; Darmon M; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.; INSERM, UMR-S1270, Institut du Fer à Moulin, Sorbonne Université, Paris F-75005, France.; Masson J; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.; INSERM, UMR-S1270, Institut du Fer à Moulin, Sorbonne Université, Paris F-75005, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):837-849

Hadchouel A; AP-HP, Hôpital Necker-Enfants Malades, Service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France. alice.hadchouel-duverge@aphp.fr.; INSERM U1151, Institut Necker Enfants Malades, Paris, France. alice.hadchouel-duverge@aphp.fr.; Faculté de médecine, Université de Paris, Paris, France. alice.hadchouel-duverge@aphp.fr.; Decobert F; Service De Réanimation Néonatale, Centre Hospitalier Intercommunal, Créteil, France.; Besmond C; Inserm UMR1163, Imagine Institute, Translational Genetics Laboratory, 24 Boulevard du Montparnasse, 75015, Paris, France.; Delacourt C; AP-HP, Hôpital Necker-Enfants Malades, Service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France.; INSERM U1151, Institut Necker Enfants Malades, Paris, France.; Faculté de médecine, Université de Paris, Paris, France.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M.; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(8):1897-1898

Wang HH; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, University of Virginia, Charlottesville, Virginia, USA.; Department of Molecular & Integrative Physiology and.; Lin LL; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, University of Virginia, Charlottesville, Virginia, USA.; Department of Molecular & Integrative Physiology and.; Li ZJ; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, University of Virginia, Charlottesville, Virginia, USA.; Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Wei X; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, University of Virginia, Charlottesville, Virginia, USA.; Department of Molecular & Integrative Physiology and.; Askander O; Hopital Cheik Zaïd, Hopital Universitaire International RABAT, Morocco.; Cappuccio G; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Hubert L; Imagine Institute, INSERM UMR1163, Paris, France.; Université Paris Cité, Paris, France.; Munnich A; Imagine Institute, INSERM UMR1163, Paris, France.; Alqahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Pang Q; Department of Neurosurgery, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.; Burmeister M; Michigan Neuroscience Institute and Departments of Computational Medicine & Bioinformatics, Psychiatry, and Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Lu Y; Department of Molecular & Integrative Physiology and.; Poirier K; Imagine Institute, INSERM UMR1163, Paris, France.; Besmond C; Imagine Institute, INSERM UMR1163, Paris, France.; Sun S; Department of Pharmacology, University of Virginia, Charlottesville, Virginia, USA.; Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Qi L; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, University of Virginia, Charlottesville, Virginia, USA.; Department of Molecular & Integrative Physiology and.; Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan, USA.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Besmond C; Inserm U1163, Imagine Institute for Genetic Diseases, Necker University Hospital, Paris, France.; Valla D; Hepatology Unit, National Reference Centre for Rare Vascular Liver Diseases, Beaujon Universitary Hospital, Unity, Clichy, France.; Hubert L; Inserm U1163, Imagine Institute for Genetic Diseases, Necker University Hospital, Paris, France.; Poirier K; Inserm U1163, Imagine Institute for Genetic Diseases, Necker University Hospital, Paris, France.; Grosse B; Inserm, UMR-S1174, Hepatinov, University of Paris-Sud 11, Orsay, France.; Guettier C; Pathology Unit, Hepatinov, Bicêtre Universitary Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris-Sud, Le Kremlin Bicêtre, France.; Bernard O; Pediatric Hepatology and Pediatric Liver Transplantation Unit, National Reference Centre for Rare Pediatric Liver Diseases, Hepatinov, Bicêtre Universitary Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris-Sud, Le Kremlin Bicêtre, France.; Gonzales E; Inserm, UMR-S1174, Hepatinov, University of Paris-Sud 11, Orsay, France.; Pediatric Hepatology and Pediatric Liver Transplantation Unit, National Reference Centre for Rare Pediatric Liver Diseases, Hepatinov, Bicêtre Universitary Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris-Sud, Le Kremlin Bicêtre, France.; Jacquemin E; Inserm, UMR-S1174, Hepatinov, University of Paris-Sud 11, Orsay, France.; Pediatric Hepatology and Pediatric Liver Transplantation Unit, National Reference Centre for Rare Pediatric Liver Diseases, Hepatinov, Bicêtre Universitary Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris-Sud, Le Kremlin Bicêtre, France.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101160857 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1478-3231 (Electronic) Linking ISSN: 14783223 NLM ISO Abbreviation: Liver Int Subsets: MEDLINE

Bogaert E; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.; Garde A; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Gautier T; University Grenoble Alpes, Inserm U1209, CNRS UMR 5309, Institute for Advanced Biosciences (IAB), 38000 Grenoble, France.; Rooney K; Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Duffourd Y; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; LeBlanc P; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.; van Reempts E; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.; Tran Mau-Them F; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Wentzensen IM; GeneDx, Gaithersburg, MD, USA.; Au KS; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA; Children's Memorial Hermann Hospital, Houston, TX, USA.; Richardson K; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA; Children's Memorial Hermann Hospital, Houston, TX, USA.; Northrup H; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA; Children's Memorial Hermann Hospital, Houston, TX, USA.; Gatinois V; Unité de Génétique Chromosomique, CHU Montpellier, Montpellier, France.; Geneviève D; Montpellier University, Inserm U1183, Montpellier, France; Reference center for rare disease developmental anomaly malformative syndrome, Department of Medical Genetics, Montpellier Hospital, Montpellier, France.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA.; Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.; Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Human Genetics, Department of Clinical Research, Health Faculty, University of Southern Denmark, 5000 Odense, Denmark.; Maxel Juul T; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; El It F; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France.; Marle N; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, CHU de Dijon, Dijon, France.; Callier P; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, CHU de Dijon, Dijon, France.; Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Haghshenas S; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; McConkey H; Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Cesario C; 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.; Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.; Pinelli M; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.; Pennamen P; Medical Genetics Department, CHU Bordeaux, Bordeaux, France.; Naudion S; Medical Genetics Department, CHU Bordeaux, Bordeaux, France.; Legendre M; Medical Genetics Department, CHU Bordeaux, Bordeaux, France.; Courdier C; Medical Genetics Department, CHU Bordeaux, Bordeaux, France.; Trimouille A; INSERM U1211, Laboratoire MRGM, Bordeaux University, Bordeaux, France; Pathology Department, CHU Bordeaux, Bordeaux, France.; Fenzy MD; Service de génétique, CHU de 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.; Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Nugent K; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Calame D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Yonath H; Internal Medicine A, Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Laboratories, Houston, TX, USA.; Musante L; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Faletra F; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Montanari F; UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Sartor G; UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Vancini A; Neonatal Intensive Care Unit, Maggiore Hospital, Bologna, Italy.; Seri M; UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.; Besmond C; Université Paris Cité, Imagine Institute, INSERM UMR1163, Paris 75015, France.; Poirier K; Université Paris Cité, Imagine Institute, INSERM UMR1163, Paris 75015, France.; Hubert L; Université Paris Cité, Imagine Institute, INSERM UMR1163, Paris 75015, France.; Hemelsoet D; Department of Neurology, Ghent University Hospital, 9000 Ghent, Belgium.; Munnich A; Université Paris Cité, Imagine Institute, INSERM UMR1163, Paris 75015, France.; Lupski JR; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Philippe C; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Thauvin-Robinet C; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France; Centre de Référence Maladies Rares « Déficiences intellectuelles de causes rares », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Faivre L; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.; Govin J; University Grenoble Alpes, Inserm U1209, CNRS UMR 5309, Institute for Advanced Biosciences (IAB), 38000 Grenoble, France.; Dermaut B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium. Electronic address: bart.dermaut@ugent.be.; Vitobello A; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France. Electronic address: antonio.vitobello@u-bourgogne.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

A, Weber; J, Marie; D, Cottreau; M P, Simon; C, Besmond; J C, Dreyfus; A, Kahn

Journal of Biological Chemistry. 259:1798-1802

Gabolde, M; Hubert, D; Guilloud-Bataille, M; Lenaerts, C; Feingold, J; Besmond, C

Journal of Medical Genetics. May 01, 2001 38(5):310-311