부산대학교 도서관

Massier M; Department of Genetics, Reims University Hospital, Reims, France.; Doco-Fenzy M; Department of Genetics, Reims University Hospital, Reims, France.; Department of Genetics, Nantes University Hospital, Nantes, France.; Egloff M; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, INSERM, LNEC, Department of Genetics, Poitiers University Hospital, Poitiers, France.; Le Guillou X; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, CNRS, LMA, Department of Genetics, Poitiers University Hospital, Poitiers, France.; Le Guyader G; Department of Genetics, Poitiers University Hospital, Poitiers, France.; Redon S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Benech C; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Le Millier K; Department of Genetics, Brest University Hospital, Brest, France.; Uguen K; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Ropars J; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; Sacaze E; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; Audebert-Bellanger S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; Apetrei A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France.; Molin A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France.; Gruchy N; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France.; Vincent-Devulder A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France.; Spodenkiewicz M; Department of Genetics, Le Reunion University Hospital, St-Pierre, France.; Jacquin C; Department of Genetics, Reims University Hospital, Reims, France.; Loron G; Department of Neonatal Medicine and Pediatric Intensive Care, University of Reims Champagne-Ardenne, CReSTIC, Reims University Hospital, Reims, France.; Thibaud M; Department of Pediatrics, American Memorial Hospital, Reims, France.; Delplancq G; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France.; Brisset S; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France.; Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Malan V; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Romana S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Marlin S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Amiel J; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Marquet V; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France.; Dauriat B; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France.; Moradkhani K; Department of Genetics, Nantes University Hospital, Nantes, France.; Mercier S; Department of Genetics, Nantes University Hospital, Nantes, France.; Isidor B; Department of Genetics, Nantes University Hospital, Nantes, France.; Arpin S; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Pujalte M; Department of Genetics, Hospices Civils de Lyon, Lyon, France.; Jedraszak G; Constitutional Genetic Laboratory, University Hospital of Amiens & UR4666 HEMATIM, University of Picardie Jules Verne, Amiens, France.; Pebrel-Richard C; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.; Salaun G; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.; Laffargue F; Department of Medical Genetics, UIC ADDIR (GRIUC ADERGEN), Constitutive Reference Center CLAD South-East: Developmental anomalies and malformative syndromes, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.; Boudjarane J; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France.; Missirian C; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France.; Chelloug N; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France.; Toutain A; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Chiesa J; Department of Genetics, Nimes, University Hospital, Nimes University Hospital, Nimes, France.; Keren B; Department of Genetics, APHP Sorbonne University, Paris, France.; Mignot C; Department of Genetics, APHP Sorbonne University, Paris, France.; Gouy E; Department of Genetics, Hospices Civils de Lyon, Lyon, France.; Jaillard S; Department of Cytogenetics and Cell Biology, Rennes university hospital, Rennes, France.; Landais E; Department of Genetics, Reims University Hospital, 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

Bourgois A; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, France.; Bizaoui V; Department of Genetics, Estran Hospital, France.; Colson C; CHU Lille, University of Lille, EA7364, Lille, France.; Vincent-Devulder A; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, France.; Molin A; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, France.; Gérard M; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, France.; Gruchy N; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, 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

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

Nature Genetics. :1-15

Mohammadi NA; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Ahring PK; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.; Yu Liao VW; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.; Chua HC; Sydney Pharmacy School, Faculty of Medicine and Health, Charles Perkins Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.; Ortiz de la Rosa S; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.; Michaeli-Yossef Y; Pediatric Neurology Unit and Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.; Vincent-Devulder A; Genetic Department, CHU Côte de Nacre, Caen, France.; Meridda C; Genetic Department, CHU Côte de Nacre, Caen, France.; Bruel AL; Genetic Department, CHU Côte de Nacre, Caen, France.; Rossi A; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Pavia, Italy.; Patel C; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Brisbane, QLD 4029, Australia.; Klepper J; Children's Hospital Aschaffenburg-Alzenau, Aschaffenburg, Germany.; Bonanni P; IRCCS E. Medea Scientific Institute, Epilepsy Unit, Conegliano, Treviso, Italy.; Minghetti S; IRCCS E. Medea Scientific Institute, Clinical Neurophysiology Unit, Bosisio Parini, LC, Italy.; Trivisano M; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.; Specchio N; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.; Amor D; Murdoch Children's Research Institute, Melbourne, Australia.; Auvin S; Université de Paris, Child Neurology & Epilepsy, Paris, France; Robert-Debré Hospital, Center for Rare Epilepsies - Pediatric Neurology, Paris, France.; Baer S; Department of Paediatric Neurology, French Reference Center of Rare Epilepsies CREER, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Meyer P; Paediatric Neurology Department, Phymedexp, Montpellier University, Inserm, CNRS, University Hospital Montpellier, Montpellier, France.; Milh M; Department of Pediatric Neurology, AP-HM, La Timone Children's Hospital, Marseille, France; Faculté de Médecine Timone, Aix Marseille Univ, INSERM, MMG, U1251, ERN EpiCARE, Marseille, France.; Salpietro V; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Weckhuysen S; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Christophersen P; Saniona A/S, Ballerup, Denmark.; Rubboli G; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Chebib M; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia.; Jensen AA; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Absalom NL; School of Medical Sciences, Faculty of Medicine and Health, Brain and Mind Centre, The University of Sydney, Sydney, New South Wales 2006, Australia; School of Science, Western Sydney University, Sydney, Australia. Electronic address: N.Absalom@westernsydney.edu.au.; Møller RS; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark. Electronic address: rimo@filadelfia.dk.

Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse

European Journal of Human Genetics. 32(9):1144-1149

Sarli C; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; van der Laan L; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Trajkova S; Department of Medical Sciences, University of Torino, Turin, Italy.; Molecular Biotechnology Center 'Guido Tarone', University of Turin, Turin, Italy.; Carli D; Department of Medical Sciences, University of Torino, Turin, Italy.; Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; McConkey H; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; Tedder ML; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Skinner C; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Alders M; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Henneman P; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Hennekam RCM; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Ciaccio C; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; D'Arrigo S; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Vitobello A; Department of Genetics, UNICAEN, Caen University Hospital, Normandy University, Caen, France.; Faivre L; Université de Bourgogne, Inserm U1231, Equipe GAD, Dijon, France.; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs', FHU-TRANSLDAD, Dijon, France.; Weber S; Service de Génétique, CHU de Caen-Normandie, Caen, France.; Service de Neurologie, CHU de Caen-Normandie, Caen, France.; Vincent-Devulder A; Department of Genetics, UNICAEN, Caen University Hospital, Normandy University, Caen, France.; Perrin L; Department of Genetics, UNICAEN, Caen University Hospital, Normandy University, Caen, France.; Bourgois A; Department of Genetics, UNICAEN, Caen University Hospital, Normandy University, Caen, France.; Yamamoto T; Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan.; Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University Foundation NHS Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Zollino M; Institute of Genomic Medicine, Department of Life Sciences and Public Health, 'Sacro Cuore' Catholic University of Rome, Rome, Italy.; Medical Genetics Unit, Foundation IRCCS AOU Policlinico 'A. Gemelli', Rome, Italy.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Oliveira D; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Williams D; Department of Clinical Genetics, Birmingham Women's & Children's NHS Foundation Trust, Birmingham, UK.; Cappuccio G; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Sadikovic B; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, Ontario, Canada.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, 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.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Paulet, A.; Bennett-Ness, C.; Ageorges, F.; Trost, D.; Green, A.; Goudie, D.; Jewell, R.; Kraatari-Tiri, M.; Piard, J.; Coubes, C.; Lam, W.; Lynch, S.A.; Groeschel, S.; Ramond, F.; Fluss, J.; Fagerberg, C.; Andersen, C.B.; Varvagiannis, K.; Kleefstra, T.; Gérard, B.; Fradin, M.; Vitobello, A.; Tenconi, R.; Denommé-Pichon, A.S.; Vincent-Devulder, A.; Haack, T.; Marsh, J.A.; Laulund, L.W.; Grimmel, M.; Riess, A.; Boer, E. de; Padilla-Lopez, S.; Bakhtiari, S.; Ostendorf, A.; Zweier, C.; Smol, T.; Willems, M.; Faivre, L.; Scala, M.; Striano, P.; Bagnasco, I.; Koboldt, D.; Iascone, M.; Suerink, M.; Kruer, M.C.; Levy, J.; Verloes, A.; Abbott, C.M.; Ruaud, L.

Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse

European Journal of Human Genetics. 32(9):1191-1191