부산대학교 도서관

Yao G; Chen XN; Flores Sarnat L; Barlow GM; PALKA, Giandomenico; Moeschler JB; McGillivray B; Morse RP; Korenberg JR

Genetics in Medicine. 8:1-7

Bracco, D; Bissonnette, B; Favre, JB; Moeschler, O; Boulard, G; Ravussin, P

Annales francaises d'anesthesie et de reanimation. 16(4):429-434

van Karnebeek CDM; Amsterdam UMC location University of Amsterdam, Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam, The Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada; United for Metabolic Diseases, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Tarailo-Graovac M; Departments of Medical Genetics and Biochemistry & Molecular Biology, Alberta Children's Hospital Research Institute (ACHRI), Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Leen R; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Meinsma R; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; Correard S; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.; Jansen-Meijer J; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; Prykhozhij SV; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Pena IA; The Picower Institute for Learning and Memory, Massachusetts Institute of Technology-MIT, Boston, MA.; Ban K; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Schock S; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Saxena V; Department of Biology, University of Ottawa, Ottawa, ON, Canada.; Pras-Raves ML; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Drögemöller BI; Rady Faculty of Health Sciences, Department of Biochemistry and Medical Genetics, Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, Manitoba, Canada.; Grootemaat AE; Amsterdam UMC Location University of Amsterdam, Department of Medical Biology, Amsterdam, The Netherlands.; van der Wel NN; Amsterdam UMC Location University of Amsterdam, Department of Medical Biology, Amsterdam, The Netherlands.; Dobritzsch D; Uppsala University, Department of Chemistry, Biomedical Center, Uppsala, Sweden.; Roseboom W; Swammerdam Institute for Life Sciences, University of Amsterdam, Laboratory for Mass Spectrometry of Biomolecules, Amsterdam, The Netherlands.; Schomakers BV; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Jaspers YRJ; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; Zoetekouw L; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; Roelofsen J; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; van der Lee R; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.; Ross CJ; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.; Kochan J; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Department of Cell Biochemistry, Kraków, Poland.; McIntyre RL; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; van Klinken JB; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; van Weeghel M; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Kramer G; Swammerdam Institute for Life Sciences, University of Amsterdam, Laboratory for Mass Spectrometry of Biomolecules, Amsterdam, The Netherlands.; Weschke B; Department of Neuropediatrics, Charité University Medicine Berlin, Berlin, Germany.; Labrune P; APHP-Université Paris-Saclay, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pédiatrie, Clamart, and Paris-Saclay University, and INSERM U 1195, Clamart, France.; Willemsen MA; Department of Pediatric Neurology and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Riva D; Neurogenetic Syndromes and Autism Spectrum Disorders Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy.; Garavaglia B; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy.; Moeschler JB; Geisel School of Medicine, Dartmouth College and Departments of Pediatrics, Children's Hospital at Dartmouth, Lebanon, NH.; Filiano JJ; Geisel School of Medicine, Dartmouth College and Departments of Pediatrics, Children's Hospital at Dartmouth, Lebanon, NH.; Ekker M; Department of Biology, University of Ottawa, Ottawa, ON, Canada.; Berman JN; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Dyment D; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Vaz FM; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Wasserman WW; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.; Houtkooper RH; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; van Kuilenburg ABP; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands. Electronic address: a.b.vankuilenburg@amsterdamumc.nl.

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

Rosenfeld JA; Fox JE; Descartes M; Brewer F; Stroud T; Gorski JL; Upton SJ; Moeschler JB; Monteleone B; Neill NJ; Lamb AN; Ballif BC; Shaffer LG; Ravnan JB

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

Brookes E; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA, Division of Newborn Medicine, Boston Children's Hospital, MA 02115, USA.; Laurent B; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA, Division of Newborn Medicine, Boston Children's Hospital, MA 02115, USA.; Õunap K; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia, Department of Pediatrics, University of Tartu, Tartu, Estonia.; Carroll R; School of Paediatrics and Reproductive Health and Robinson Institute, The University of Adelaide, Adelaide, SA 5000, Australia.; Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Lebanon, NH 03756, USA.; Field M; GOLD NSW, Hunter Genetics, Newcastle, Australia and.; Schwartz CE; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Gecz J; School of Paediatrics and Reproductive Health and Robinson Institute, The University of Adelaide, Adelaide, SA 5000, Australia.; Shi Y; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA, Division of Newborn Medicine, Boston Children's Hospital, MA 02115, USA, yshi@hms.harvard.edu.

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

Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Von Allmen GK; Division of Child and Adolescent Neurology, Department of Pediatrics, University of Texas Health Science Center at Houston, TX, USA.; Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Wilfong AA; Department of Pediatric Neurology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.; Kang SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Ferreira JA; Department of Pediatrics, University of South Florida, Tampa, FL, USA.; Upton SJ; Section of Medical Genetics, Department of Pediatrics, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.; Moeschler JB; Section of Medical Genetics, Department of Pediatrics, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Rosenfeld JA; Signature Genomic Laboratories, PerkinElmer Inc., Spokane, WA, USA.; Shaffer LG; Paw Print Genetics, Genetic Veterinary Sciences Inc., Spokane, WA, USA.; Wai Cheung S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Sherr EH; Departments of Neurology and Pediatrics and Institute of Human Genetics, University of California, San Francisco, San Francisco, CA.; Michelson DJ; Shevell MI; Moeschler JB; Gropman AL; Ashwal S

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

Girirajan S; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.; Rosenfeld JA; Cooper GM; Antonacci F; Siswara P; Itsara A; Vives L; Walsh T; McCarthy SE; Baker C; Mefford HC; Kidd JM; Browning SR; Browning BL; Dickel DE; Levy DL; Ballif BC; Platky K; Farber DM; Gowans GC; Wetherbee JJ; Asamoah A; Weaver DD; Mark PR; Dickerson J; Garg BP; Ellingwood SA; Smith R; Banks VC; Smith W; McDonald MT; Hoo JJ; French BN; Hudson C; Johnson JP; Ozmore JR; Moeschler JB; Surti U; Escobar LF; El-Khechen D; Gorski JL; Kussmann J; Salbert B; Lacassie Y; Biser A; McDonald-McGinn DM; Zackai EH; Deardorff MA; Shaikh TH; Haan E; Friend KL; Fichera M; Romano C; Gécz J; DeLisi LE; Sebat J; King MC; Shaffer LG; Eichler EE

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.; Adachi-Fukuda M; Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.; Alanay Y; School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.; AlKindy A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.; Baban A; Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.; Bayat A; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.; Beck-Wödl S; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.; Berry K; Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Bok LA; Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.; Brouwer AFJ; Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.; van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.; Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.; Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.; Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.; Dahan K; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; De Rademaeker M; Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.; Destree A; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; Dudding-Byth T; Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.; Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Elcioglu N; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.; Elias ER; Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Gener B; Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.; Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Grasshoff U; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.; Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.; Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.; Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.; Kersseboom R; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.; Kilic E; Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.; Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Lammers K; Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.; Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.; Lederer D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; Lees M; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.; López-González V; Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERERISCIII, Murcia, Spain.; Maas S; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Mancini GMS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.; McKee S; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.; Mehta S; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.; Metcalfe K; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.; Milunsky J; Center for Human Genetics Inc, Cambridge, MA, USA.; Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.; Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.; Netzer C; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.; Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Oehl-Jaschkowitz B; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.; Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.; Olminkhof SNM; Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.; Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Pasquier L; CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.; Pottinger C; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.; Riehmer V; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.; Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.; Rooryck C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.; Ropers FG; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.; Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Sagiroglu MS; Genpute Computation Technologies Company, Istanbul, Turkey.; Sallevelt SCEH; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Calvo AS; Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.; Simsek-Kiper PO; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.; Soares G; Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.; Solaeche L; Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.; Sonmez FM; Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.; Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.; Steenbeek D; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.; Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Tanabe S; Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.; Uctepe E; Enva Engineering, Ankara, Turkey.; Utine GE; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.; Veenstra-Knol HE; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Vincent-Delorme C; Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.; Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Wheeler P; Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.; Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.; Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Kosho T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.; Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.; Eichler E; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Clayton-Smith J; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. santen@lumc.nl.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; PubMed not MEDLINE

van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.; Adachi-Fukuda M; Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.; Alanay Y; School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.; AlKindy A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.; Baban A; Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.; Bayat A; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.; Beck-Wödl S; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.; Berry K; Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Bok LA; Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.; Brouwer AFJ; Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.; van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.; Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.; Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.; Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.; Dahan K; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; De Rademaeker M; Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.; Destree A; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; Dudding-Byth T; Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.; Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Elcioglu N; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.; Elias ER; Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Gener B; Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.; Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; Grasshoff U; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.; Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.; den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.; Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.; Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.; Kersseboom R; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.; Kilic E; Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.; Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Lammers K; Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.; Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.; Lederer D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; Lees M; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.; López-González V; 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Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

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Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1061-4036 (Print) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

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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

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Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE

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