부산대학교 도서관

van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Gösgens M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.; IRCCS Istituto Giannina Gaslini, Genova, Italy.; Mignot C; Service de génétique médicale, APHP Pitié-Salpêtrière, Paris, France.; Faudet A; Département de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France.; Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Walther M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Schrier Vergano SA; Children's Hospital of The King's Daughters, Norfolk, VA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA.; Alders M; Section Clinical Genetics, Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Alorainy I; Department of Radiology and Diagnostic Imaging, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Alsaif HS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.; Anderlid B; Clinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Bache I; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; van Beek I; Section Clinical Genetics, Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands.; Blanluet M; Service de Génétique Oncologique, Institut Curie, Paris, France.; van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, D-80337 Munich, Germany.; Brunner H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Carriero ML; Medical Genetics, University of Siena, Siena, Italy.; Charles P; Service de génétique médicale, APHP Pitié-Salpêtrière, Paris, France.; Chatron N; Service de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Coccia E; Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.; Dubourg C; Service de Génétique Moléculaire et Génomique Médicale, CHU de Rennes, Rennes, France.; Univ Rennes, CNRS, INSERM, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, ERL U1305, RENNES, France.; Earl RK; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.; Howard Hughes Medical Institute, University of Washington, School of Medicine, Seattle, WA.; Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France.; Genetics of Developmental Disorders, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France.; Foulds N; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, United Kingdom.; Graziano C; Medical Genetics Unit, AUSL Romagna, Cesena, Italy.; Guerrot AM; Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Heide S; Département de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France.; Heron D; Département de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France.; Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.; Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Kattentidt-Mouravieva A; Stichting Zuidwester, Middelharnis, the Netherlands.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen, University Medical Center Groningen, the Netherlands.; Kurtz-Nelson EC; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA.; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN.; Kušíková K; Department of Pediatric Neurology, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Bratislava, Slovakia.; Kvarnung M; Clinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Lecoquierre F; Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Leszinski GS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Loberti L; Medical Genetics, University of Siena, Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Centre, University of Siena, Siena, Italy.; Magoulas PL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Mari F; Medical Genetics, University of Siena, Siena, Italy.; Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; Merla G; Department of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Milunsky JM; Center for Human Genetics Inc, Cambridge, MA.; Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; Nicolas G; Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Leary MO'; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.; Odent S; Univ Rennes, CNRS, INSERM, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, ERL U1305, RENNES, France.; Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, RENNES, France.; Ozmore JR; Medical Genetics, Dartmouth Hitchcock Medical Center, Lebanon, NH.; Parbhoo K; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Piccione M; Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy.; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.; Pinto AM; Medical Genetics, University of Siena, Siena, Italy.; Popp B; Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany.; Putoux A; Service de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.; Rehm HL; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Centre, University of Siena, Siena, Italy.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Baylor Genetics Laboratories, Houston, TX.; Rossi M; Service de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.; Salzano E; Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy.; Saugier-Veber P; Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Seri M; Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.; Severi G; Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.; Sonmez FM; Department of Child Neurology, Karadeniz Technical University Faculty of Medicine, Retired Lecturer, Trabzon, Turkey.; Strobl-Wildemann G; MVZ Humangenetik Ulm, Ulm, Germany.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Uctepe E; Acıbadem Labmed Ankara Tissue Typing Laboratory, Ankara, Turkey.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Vitetta G; Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Wahl D; Department of Clinical Genetics, MVZ Martinsried, Munich, Germany.; Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.; Neuroscience Research Institute, Peking University Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China.; Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany.; Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, the Netherlands.; Ropers FG; Willem-Alexander Children's Hospital, department of Pediatrics, Leiden University Medical Center, the Netherlands.; Steenbeek D; Department of Rehabilitation Medicine, Maastricht University Medical Center / Adelante Rehabilitation, Maastricht, The Netherlands.; Rybak T; 's Heeren Loo Noordwijk, Noordwijk, the Netherlands.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Makrythanasis, P; van Bon, B W; Steehouwer, M; Rodríguez-Santiago, B; Simpson, M; Dias, P; Anderlid, B M; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, E MHF; del Campo, M; Cordeiro, I; Cueto-González, A M; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galán, E; Gener, B; Gilissen, C; Granneman, S M; Hoyer, J; Yntema, H G; Kets, C M; Koolen, D A; Marcelis, C L; Medeira, A; Micale, L; Mohammed, S; de Munnik, S A; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp-Versteeg, M; Santos, H G; Schoumans, J; Schuurs-Hoeijmakers, J HM; Silengo, M C; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, R C; Perez-Jurado, L; Dupont, J; de Vries, B BA; Brunner, H G; Veltman, J A; Merla, G; Antonarakis, S E; Hoischen, A

Clinical Genetics. Dec 01, 2013 84(6):539-545