부산대학교 도서관

Duy PQ; Department of Neurosurgery, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.; Department of Neuroscience, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.; Jux B; Molecular Immunology and Cell Biology, Life & Medical Sciences Institute (LiMES), University of Bonn, Bonn 53012, Germany.; Zhao S; Department of Genetics, School of Medicine, Washington University, St. Louis, MO 63110, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Mekbib KY; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Dennis E; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Dong W; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065, USA.; Nelson-Williams C; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.; Mehta NH; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Shohfi JP; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Juusola J; GeneDx, Gaithersburg, MD 20877, USA.; Allington G; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Smith H; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Marlin S; Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, Paris Descartes, Sorbonne Paris Cité University, Paris 75013, France.; Belhous K; Department of Radiology, Necker Children Hospital, Assistance Publique-Hôpitaux de Paris, University Paris 5, Paris 75004, France.; Monteleone B; Division of Clinical Genetics, NYU Langone Health, Long Island, Mineola, NY 11501, USA.; Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 77205, USA.; Pisarska MD; Department of Obstretrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Vásquez J; Division of Clinical Genetics, NYU Langone Health, Long Island, Mineola, NY 11501, USA.; Estrada-Veras JI; Department of Surgery, Henry M Jackson Foundation for the Advancement of Military Medicine and Uniformed Services University of the Health Sciences, Bethesda, MD 20817, USA.; Pediatric Subspecialty Genetics Walter Reed National Military Medical Center, Bethesda, MD 20889, USA.; Keren B; Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris 75013, France.; Mignot C; Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière University Hospital, Paris 75013, France.; Flore LA; Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI 48201, USA.; Central Michigan University College of Medicine, Mount Pleasant, MI 48858, USA.; Palafoll IV; Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble 38700, France.; Alper SL; Division of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.; Haider S; School of Pharmacy, University College London, London WC1E 6BT, UK.; Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, ON K7L 3N6, Canada.; Jin SC; Department of Genetics, School of Medicine, Washington University, St. Louis, MO 63110, USA.; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 063110, USA.; Kolanus W; Molecular Immunology and Cell Biology, Life & Medical Sciences Institute (LiMES), University of Bonn, Bonn 53012, Germany.; Kahle KT; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.; Harvard Center for Hydrocephalus and Neurodevelopmental Disorders, Massachusetts General Hospital, Boston, MA 02114, USA.

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

Mak CCY; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong SAR, China.; Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany; Institute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Choufani S; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Reko N; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Christman AK; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Pisan E; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université Paris Cité, Paris, 75015, France.; Chui MMC; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong SAR, China.; Lee M; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong SAR, China.; Leduc F; CHU Lille, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Lille, F-59000, France.; Dempsey JC; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA; Department of Pediatrics, Guerin Children's at Cedars Sinai Medical Center, Los Angeles, CA, USA.; Bombei HM; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, IA, USA.; Bernat JA; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals, Iowa City, IA, USA.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Institut GIMI, Hôpital d'Enfants, CHU Dijon-Bourgogne, Dijon, France; Equipe GAD INSERM UMR1231, Université de Bourgogne Franche Comté, Dijon, France.; Mau-Them FT; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Institut GIMI, Hôpital d'Enfants, CHU Dijon-Bourgogne, Dijon, France; UF 6254 Innovation en diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Palafoll IV; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Canham N; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Crown Street, Liverpool, UK.; Sarkar A; Department of Clinical Genetics, Nottingham University Hospitals National Health Service Trust, Nottingham, NG5 1PB, UK.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, 72701, USA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Bukowska-Olech E; Department of Laboratory Diagnostics, Poznan University of Medical Sciences, Poznan, Poland.; Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; Diagnostyka GENESIS, Center for Medical Genetics in Poznan, Poland.; Zankl A; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia; Garvan Institute of Medical Research, Sydney, Australia.; Willems M; Unité INSERM U 1051, Département de Génétique Médicale, CHRU de Montpellier, Montpellier, France.; Duncan L; Department of Pediatrics at Vanderbilt University Medical Center, Nashville, TN, USA.; Isidor B; Service de Génétique Médicale and L'institut du Thorax, CHU Nantes, Nantes Université, CNRS, INSERM, Nantes, France.; Cogne B; Medical Genetics Service, Nantes University Hospital Center, Nantes, France.; Boute O; CHU Lille, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Lille, F-59000, France.; Vanlerberghe C; CHU Lille, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Lille, F-59000, France.; Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Rouen, F-76000, France.; Stolerman E; Greenwood Genetic Center, SC, USA.; Low KJ; Centre for Academic Child Health, Bristol Medical School, University of Bristol, UK; Department of Clinical Genetics, UHBW NHS Trust, Bristol, UK.; Gilard V; Department of Pediatric Neurosurgery, Rouen University Hospital, Rouen, 76000, France.; Amiel J; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université Paris Cité, Paris, 75015, France.; Lin AE; Medical Genetics, Mass General for Children, Boston, MA, 02114, USA.; Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université Paris Cité, Paris, 75015, France.; Doherty D; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Weksberg R; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1X8, Canada. Electronic address: rweksb@sickkids.ca.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany. Electronic address: thsieh@uni-bonn.de.; Chung BHY; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong SAR, China. Electronic address: bhychung@hku.hk.

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

Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Campus Hospital, Autonomous University of Barcelona, Barcelona, Spain; European Reference Network Craniofacial Anomalies and ENT disorders (ERN CRANIO) and ERN ITHACA, Barcelona, Spain. Electronic address: amcueto@vhebron.net.; Fernández-Álvarez P; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Campus Hospital, Autonomous University of Barcelona, Barcelona, Spain.; Palafoll IV; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Campus Hospital, Autonomous University of Barcelona, Barcelona, Spain; European Reference Network Craniofacial Anomalies and ENT disorders (ERN CRANIO) and ERN ITHACA, Barcelona, Spain.; Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Campus Hospital, Autonomous University of Barcelona, Barcelona, Spain.; Vendrell Bayona T; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Campus Hospital, Autonomous University of Barcelona, Barcelona, Spain.; Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Campus Hospital, Autonomous University of Barcelona, Barcelona, Spain; European Reference Network Craniofacial Anomalies and ENT disorders (ERN CRANIO) and ERN ITHACA, Barcelona, Spain.

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

Gillentine MA; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.; Wang T; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.; Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.; Rosenfeld J; Baylor Genetics Laboratories, Houston, TX, USA.; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Liu P; Baylor Genetics Laboratories, Houston, TX, USA.; Guo H; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Kim CN; Department of Anatomy, University of California, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, CA, USA.; Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.; De Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Nordenskjold M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Gecz J; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.; Iascone M; Laboratorio di Genetica Medica - ASST Papa Giovanni XXIII, Bergamo, Italy.; Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.; Scatigno A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.; Maitz S; Genetic Unit, Department of Pediatrics, Fondazione MBBM S. Gerardo Hospital, Monza, Italy.; Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Schuhmann S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Wiesener A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Pepper M; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.; Panjwani H; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.; Torti E; GeneDX, Gaithersburg, MD, USA.; Abid F; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Anselm I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Atwal P; The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, FL, USA.; Bacino CA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Bhat G; Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.; Cobian K; Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.; Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA.; Friedman J; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA, USA.; Wright MS; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Callewaert B; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.; Petit F; Clinique de Génétique, Hôpital Jeanne de Flandre, Bâtiment Modulaire, CHU, 59037, Lille Cedex, France.; Mathieu S; Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France.; Afenjar A; Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France.; Christensen CK; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.; White KM; Department of Medical and Molecular Genetics, IU Health, Indianapolis, IN, USA.; Elpeleg O; Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.; Berger I; Pediatric Neurology, Assuta-Ashdod University Hospital, Ashdod, Israel.; Health Sciences, Ben-Gurion University of the Negev, Beersheba, Israel.; Espineli EJ; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Hansen LK; H C Andersen Chilldrens Hospital, Odense University Hospital, Odense, Denmark.; Feyma T; Gillette Children's Specialty Healthcare, Saint Paul, MN, USA.; Hughes S; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Thiffault I; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.; Sullivan B; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; Yan S; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; Keller K; Oregon Health & Science University, Corvallis, OR, USA.; Keren B; Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France.; Mignot C; Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France.; Kooy F; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Meuwissen M; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Basinger A; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.; Kukolich M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.; Philips M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.; Ortega L; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.; Drummond-Borg M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.; Lauridsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Sorensen K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; BC Children's Hospital and BC Women's Hospital, Vancouver, BC, Canada.; Lopez-Rangel E; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Division of Developmental Pediatrics, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.; Sunny Hill Health Centre for Children, Vancouver, BC, Canada.; Levy P; Department of Pediatrics, The Children's Hospital at Montefiore, Bronx, NY, USA.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lotze T; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.; Madan-Khetarpal S; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Sebastian J; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.; Vento J; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.; Vats D; Kaiser Permanente Southern California, Los Angeles, CA, USA.; Benman LM; The Permanente Medical Group, Oakland, CA, USA.; Mckee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.; Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Muss C; Al Dupont Hospital for Children, Wilmington, DE, USA.; Pappas J; NYU Grossman School of Medicine, Department of Pediatrics, Clinical Genetic Services, New York, NY, USA.; Peeters H; Center for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.; Romano C; Oasi Research Institute-IRCCS, Troina, Italy.; Elia M; Oasi Research Institute-IRCCS, Troina, Italy.; Galesi O; Oasi Research Institute-IRCCS, Troina, Italy.; Simon MEH; Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands.; Simpson K; Rare Disease Institute, Children's National Health System, Washington, DC, USA.; Stratton R; Department of Genetics, Driscoll Children's Hospital, Corpus Christi, TX, USA.; Syed S; Department of Pediatric Gastroenterology, Driscoll Children's Hospital, Corpus Christi, TX, USA.; Thevenon J; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebrón, Barcelona, Spain.; Palafoll IV; Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble, France.; Vitobello A; UF Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne and INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, F-21000, Dijon, France.; INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.; Bournez M; Centre de Référence Maladies Rares « déficience intellectuelle », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France.; Faivre L; INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France.; Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Earl RK; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Nowakowski T; Department of Anatomy, University of California, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, CA, USA.; Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.; Bernier RA; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA. eee@gs.washington.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. eee@gs.washington.edu.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Staufner C; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Peters B; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Alameer S; Department of Pediatrics, King Khaled National Guard Hospital, Jeddah, Saudi Arabia.; Barić I; Department of Pediatrics, University Hospital Center Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia.; Broué P; Pediatric Gastroenterology, Hepatology and Nutrition unit, Reference Center for Inherited Metabolic Diseases, Children's Hospital, Toulouse University Hospital, Toulouse, France.; Bulut D; Cukurova University Medical Faculty, Department of Pediatric Metabolism, Adana, Turkey.; Church JA; Department of Pediatrics, University of Southern California, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Crushell E; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.; Dalgıç B; Gazi University Faculty of Medicine, Department of Pediatric Gastroenterology, Ankara, Turkey.; Das AM; Clinic for Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany.; Dick A; Department of Pediatrics, University Hospital Würzburg, Wuerzburg, Germany.; Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.; Bozbulut NE; Gazi University Faculty of Medicine, Department of Pediatric Gastroenterology, Ankara, Turkey.; Feillet F; Department of Pediatrics, INSERM 1256, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France.; Gonzales E; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Bicêtre Hospital, AP-HP Paris-Sud University, Le Kremlin-Bicêtre, France.; Hadzic N; Pediatric Liver, GI and Nutrition Centre and Mowatlabs, King's College Hospital, London, UK.; Hauck F; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.; Hegarty R; Pediatric Liver, GI and Nutrition Centre and Mowatlabs, King's College Hospital, London, UK.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.; Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Kopajtich R; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Kuster A; Inborn Errors of Metabolism, Pediatric Intensive Care Unit, University Hospital of Nantes, Nantes, France.; Laass MW; Children's Hospital, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Lainka E; Children's Hospital, Department of Pediatric Gastroenterology, Hepatology, and Transplant Medicine, University Duisburg-Essen, Essen, Germany.; Larson-Nath C; Pediatric Gastroenterology, University of Minnesota Medical School, Minneapolis, MN, USA.; Leibner A; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Lurz E; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.; Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.; McKiernan P; University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.; Mention K; Reference Center for Inherited Metabolic Diseases, Jeanne de Flandres Hospital, Lille, France.; Moog U; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Mungan NO; Cukurova University Medical Faculty, Department of Pediatric Metabolism, Adana, Turkey.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Palafoll IV; Department of Clinical Genetics and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain.; Vockley J; University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.; Westphal DS; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Wiedemann A; Department of Pediatrics, INSERM 1256, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France.; Wortmann SB; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.; Diwan GD; CellNetworks, Bioquant, Heidelberg University, Heidelberg, Germany.; Biochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, Germany.; Russell RB; CellNetworks, Bioquant, Heidelberg University, Heidelberg, Germany.; Biochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, Germany.; Prokisch H; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Garbade SF; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Kölker S; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Hoffmann GF; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Lenz D; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. Dominic.Lenz@med.uni-heidelberg.de.

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

Sen P; Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA. psen@bcm.edu; Yang Y; Navarro C; Silva I; Szafranski P; Kolodziejska KE; Dharmadhikari AV; Mostafa H; Kozakewich H; Kearney D; Cahill JB; Whitt M; Bilic M; Margraf L; Charles A; Goldblatt J; Gibson K; Lantz PE; Garvin AJ; Petty J; Kiblawi Z; Zuppan C; McConkie-Rosell A; McDonald MT; Peterson-Carmichael SL; Gaede JT; Shivanna B; Schady D; Friedlich PS; Hays SR; Palafoll IV; Siebers-Renelt U; Bohring A; Finn LS; Siebert JR; Galambos C; Nguyen L; Riley M; Chassaing N; Vigouroux A; Rocha G; Fernandes S; Brumbaugh J; Roberts K; Ho-Ming L; Lo IF; Lam S; Gerychova R; Jezova M; Valaskova I; Fellmann F; Afshar K; Giannoni E; Muhlethaler V; Liang J; Beckmann JS; Lioy J; Deshmukh H; Srinivasan L; Swarr DT; Sloman M; Shaw-Smith C; van Loon RL; Hagman C; Sznajer Y; Barrea C; Galant C; Detaille T; Wambach JA; Cole FS; Hamvas A; Prince LS; Diderich KE; Brooks AS; Verdijk RM; Ravindranathan H; Sugo E; Mowat D; Baker ML; Langston C; Welty S; Stankiewicz P

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Braquehais, M D; Vargas-Cáceres, S; Gómez-Durán, E; Nieva, G; Valero, S; Casas, M; Bruguera, E

QJM: An International Journal of Medicine. Sep2020, Vol. 113 Issue 9, p613-617. 5p.