부산대학교 도서관

Elhaji Y; Division of Clinical Dermatology & Cutaneous Science, Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.; van Henten TMA; Department of Dermatology, Haaglanden Medical Center, The Hague, The Netherlands.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Nightingale M; Genomics Core facility, Dalhousie University, Halifax, Nova Scotia, Canada.; Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Vos LE; Department of Dermatology, Haaglanden Medical Center, The Hague, The Netherlands.; Hull PR; Division of Clinical Dermatology & Cutaneous Science, Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.

Publisher: Elsevier B.V. on behalf of the Society for Investigative Dermatology Country of Publication: Netherlands NLM ID: 101776173 Publication Model: eCollection Cited Medium: Internet ISSN: 2667-0267 (Electronic) Linking ISSN: 26670267 NLM ISO Abbreviation: JID Innov Subsets: PubMed not MEDLINE

Lahrouchi N; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Postma AV; Department of Clinical Genetics, and.; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands.; Salazar CM; Department of Pharmacological Sciences and Graduate Program in Molecular and Cellular Pharmacology, Stony Brook University, Stony Brook, New York, USA.; De Laughter DM; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.; Tjong F; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Piherová L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Bowling FZ; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, New York, USA.; Zimmerman D; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Lodder EM; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Ta-Shma A; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.; Perles Z; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.; Beekman L; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Ilgun A; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands.; Gunst Q; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands.; Hababa M; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Škorić-Milosavljević D; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Tomek V; Children's Heart Centre, 2nd Faculty of Medicine, Charles University in Prague, Motol University Hospital, Prague, Czech Republic.; de Knijff P; Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands.; de Leeuw R; Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands.; Robinson JY; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.; Burn SC; Department of Obstetrics, Gynecology and Women's Health.; Mustafa H; Department of Obstetrics, Gynecology and Women's Health.; Ambrose M; Department of Pediatrics, Division of Pediatric Cardiology, and.; Moss T; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.; Jacober J; Department of Pediatrics, Ochsner Clinic, Tulane University, University of Queensland, New Orleans, Louisiana, USA.; Niyazov DM; Department of Pediatrics, Ochsner Clinic, Tulane University, University of Queensland, New Orleans, Louisiana, USA.; Wolf B; Division of Genetics, Birth Defects and Metabolic Disorders, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Kim KH; Division of Genetics, Birth Defects and Metabolic Disorders, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Cherny S; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Rousounides A; Makarios Medical Centre, Nicosia, Cyprus.; Aristidou-Kallika A; Ultrasound and Fetal Medicine Diagnostic Centre, Nicosia, Cyprus.; Tanteles G; Cyprus School of Molecular Medicine, Nicosia, Cyprus.; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Ange-Line B; UMR 1231 INSERM, GAD, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Estaing (CHU), Dijon Bourgogne, Dijon, France.; Denommé-Pichon AS; UMR 1231 INSERM, GAD, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Estaing (CHU), Dijon Bourgogne, Dijon, France.; Francannet C; Service de Génétique Médicale, CHU Estaing, Clermont-Ferrand, France.; Ortiz D; Medical Genetics Department, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Haak MC; Department of Obstetrics and.; Ten Harkel AD; Department of Pediatric Cardiology, Leiden University Medical Centre, Leiden, Netherlands.; Manten GT; Department of Obstetrics and.; Dutman AC; Department of Pathology, Isala Women and Children's Hospital, Zwolle, Netherlands.; Bouman K; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, Netherlands.; Magliozzi M; Genetic and Rare Disease Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.; Radio FC; Genetic and Rare Disease Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.; Santen GW; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.; Herkert JC; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, Netherlands.; Brown HA; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.; Elpeleg O; Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.; van den Hoff MJ; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands.; Mulder B; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.; Airola MV; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, New York, USA.; Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Barnett JV; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.; Clur SA; Department of Pediatric Cardiology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Frohman MA; Department of Pharmacological Sciences and Graduate Program in Molecular and Cellular Pharmacology, Stony Brook University, Stony Brook, New York, USA.; Bezzina CR; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.

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

Knibbe CA; Krekels EH; van den Anker JN; Dejongh J; Santen GW; van Dijk M; Simons SH; van Lingen RA; Jacqz-Aigrain EM; Danhof M; Tibboel D; Knibbe, Catherijne A J; Krekels, Elke H J; van den Anker, Johannes N; DeJongh, Joost; Santen, Gijs W E; van Dijk, Monique; Simons, Sinno H P; van Lingen, Richard A; Jacqz-Aigrain, Evelyne M; et al

Clinical Pharmacokinetics (CLIN PHARMACOKINET), 2009; 48(6): 371-385. (15p)

Ivanovski I; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Department of Surgical, Medical, Dental, and Morphological Sciences with Interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.; Djuric O; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade, Serbia.; Caraffi SG; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Santodirocco D; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Pollazzon M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Rosato S; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Cordelli DM; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.; Abdalla E; Department of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt.; Accorsi P; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy.; Adam MP; Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.; Ajmone PF; Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Badura-Stronka M; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.; Baldo C; Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy.; Baldi M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Bayat A; Department of Pediatrics, University Hospital of Copenhagen/Hvidovre, Copenhagen, Denmark.; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.; Bigoni S; UOL of Medical Genetics, University Hospital of Ferrara, Ferrara, Italy.; Bonvicini F; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.; Breckpot J; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Cocchi G; Neonatology Unit, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.; Cuturilo G; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia.; De Brasi D; Department of Pediatrics, AORN Santobono Pausilipon, Naples, Italy.; Devriendt K; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.; Dinulos MB; Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.; Hjortshøj TD; Department of Clinical Genetics, Kennedy Center, Glostrup, Denmark.; Epifanio R; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy.; Faravelli F; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Fiumara A; Department of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Catania, Italy.; Formisano D; Scientific Directorate, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.; Giordano L; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy.; Grasso M; Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy.; Grønborg S; Center for Rare Diseases, Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark.; Iodice A; Neuropsychiatric Department, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.; Iughetti L; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.; Kuburovic V; Department of Cardiology, Mother and Child Health Care Institute, Belgrade, Serbia.; Kutkowska-Kazmierczak A; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland.; Lacombe D; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France.; Lo Rizzo C; Medical Genetics, University of Siena, Siena, Italy.; Luchetti A; Child Neuropsychiatry Unit, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy.; Malbora B; Department of Pediatric Hematology & Oncology, Tepecik Training and Research Hospital, Izmir, Turkey.; Mammi I; Medical Genetics Unit, Dolo Hospital, Venice, Italy.; Mari F; Medical Genetics, University of Siena, Siena, Italy.; Montorsi G; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Faculty of Medicine, University of Modena and Reggio Emilia, Modena, Italy.; Moutton S; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France.; Møller RS; Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Muschke P; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Nielsen JEK; Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Denmark.; Obersztyn E; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland.; Pantaleoni C; Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico 'C. Besta,', Milan, Italy.; Pellicciari A; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.; Pisanti MA; Medical Genetic Unit, AORN Cardarelli, Naples, Italy.; Prpic I; Department of Pediatrics-Child Neurology Service, University Hospital Rijeka, Medical Faculty, University of Rijeka, Rijeka, Croatia.; Poch-Olive ML; Department of Pediatrics, H. San Pedro, La Rioja, Logrono, Spain.; Raviglione F; Child Neuropsychiatry Unit, U.O.N.P.I.A ASST-Rhodense, Rho, Milan, Italy.; Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Ricci E; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.; Rivieri F; Genetics Unit, St. Chiara Hospital, Trento, Italy.; Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Savasta S; Department of Pediatrics, IRCCS San Matteo, Pavia, Italy.; Scarano G; Department of Medical Genetics, Gaetano Rummo Hospital, Benevento, Italy.; Schanze I; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Selicorni A; Department of Pediatrics, Hospital S. Gerardo, University of Milano-Bicocca, Monza, Italy.; Department of Pediatrics, ASST Lariana, Como, Italy.; Silengo M; Department of Pediatrics, University of Torino, Torino, Italy.; Smigiel R; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.; Spaccini L; Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, Universita' degli Studi di Milano, Milan, Italy.; Sorge G; Department of Pediatrics and Medical Sciences, 'Vittorio Emanuele' Hospital, University of Catania, Catania, Italy.; Szczaluba K; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.; Tarani L; Department of Pediatrics, University 'La Sapienza,', Rome, Italy.; Tone LG; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.; Toutain A; Department of Genetics, Tours University Hospital, Tours, France.; Trimouille A; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France.; Valera ET; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.; Vergano SS; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Zanotta N; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Zenker M; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Conidi A; Department of Cell Biology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Zollino M; Institute of Genomic Medicine, Catholic University, Gemelli Hospital Foundation, Rome, Italy.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Garavelli L; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy. livia.garavelli@ausl.re.it.

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

Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Waanders E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Ligtenberg MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands.; van Bladel DAG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Kamping EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Hoogerbrugge PM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Olderode-Berends MJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; van Belzen MJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Mordaunt D; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.; McGregor L; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.; Thompson E; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.; Kattamis A; First Department of Pediatrics, Athens University Medical School, Athens, Greece.; Pastorczak A; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.; Mlynarski W; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.; Ilencikova D; 2nd Pediatric Department, Children's University Hospital, Comenius University, Bratislava, Slovakia.; van Silfhout AV; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; de Bont ES; Department of Pediatric Oncology and Hematology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands.; Loeffen J; Department of Pediatric Oncology and Hematology, Sophia Children's Hospital, Erasmus Medical Center, Rotterdam, the Netherlands.; Wagner A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.; Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kuiper RP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Jongmans MC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Marjolijn.Jongmans@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.

Publisher: The Association Country of Publication: United States NLM ID: 9502500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-3265 (Electronic) Linking ISSN: 10780432 NLM ISO Abbreviation: Clin Cancer Res Subsets: MEDLINE

Celen C; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States.; Chuang JC; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States.; Luo X; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States.; Department of Bioinformatics, University of Texas Southwestern Medical Center, Dallas, United States.; Nijem N; Departments of Neuroscience, University of Texas Southwestern Medical Center, Dallas, United States.; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, United States.; Walker AK; Departments of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, United States.; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, United States.; Chen F; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Neuroscience, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, United States.; Zhang S; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States.; Chung AS; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States.; Nguyen LH; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States.; Nassour I; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States.; Budhipramono A; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States.; Sun X; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States.; Bok LA; Department of Pediatrics, Máxima Medical Center, Veldhoven, The Netherlands.; McEntagart M; Medical Genetics, St George's University Hospitals, NHS Foundation Trust, United Kingdom Caroline Brain, Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom.; Gevers EF; William Harvey Research Institute, Barts and the London, Queen Mary University of London, London, United Kingdom.; Birnbaum SG; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, United States.; Eisch AJ; Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, and Mahoney Institute of Neuroscience, Perelman School of Medicine, University of Pennsylvania, Philadelphia, United States.; Powell CM; Departments of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, United States.; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, United States.; Ge WP; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Neuroscience, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, United States.; Santen GW; Department of Clinical genetics, Leiden University Medical Center, Leiden, The Netherlands.; Chahrour M; Departments of Neuroscience, University of Texas Southwestern Medical Center, Dallas, United States.; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, United States.; Zhu H; Children's Research Institute, University of Texas Southwestern Medical Center, Dallas, United States.; Departments of Pediatrics and Internal Medicine, Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, United States.

Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Fountain MD; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Cho MT; GeneDX, Gaithersburg, Maryland, USA.; Juusola J; GeneDX, Gaithersburg, Maryland, USA.; Walkiewicz MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Ray JW; Division of Medical Genetics, University of Texas Medical Branch, Galveston, Texas, USA.; Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA.; Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Ruivenkamp CA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Mancias P; Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA.; Northrup H; Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA.; Kukolich MK; Genetic Services, Cook Children's Health Care System, Fort Worth, Texas, USA.; Weiss MM; Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; van Ravenswaaij-Arts CM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Mathijssen IB; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.; Levesque S; Département de pédiatrie, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Quebec, Canada.; Meeks N; Children's Hospital Colorado, Aurora, Colorado, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Lemke D; Children's Hospital Colorado, Aurora, Colorado, USA.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Lewis SK; Department of Medical Genetics, BC Children's and Women's Health Center of British Columbia, The University of British Columbia, Vancouver, British Columbia, Canada.; Race S; Department of Medical Genetics, BC Children's and Women's Health Center of British Columbia, The University of British Columbia, Vancouver, British Columbia, Canada.; Stewart LL; Department of Pediatrics, BC Children's and Women's Health Center of British Columbia, The University of British Columbia, Vancouver, British Columbia, Canada.; Hay B; Division of Genetics, UMass Memorial Children's Medical Center, University of Massachusetts Medical School, Worcester, Massachusetts, USA.; Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Guerreiro RL; Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK.; Bras JT; Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK.; Martins MP; Centro Hospitalar de Trás-os-Montes e Alto Douro, Unidade Hospital de Vila Real, Vila Real, Portugal.; Derksen-Lubsen G; Department of Pediatrics, Juliana Children's Hospital-Haga Teaching Hospital, The Hague, The Netherlands.; Peeters E; Department of Child Neurology, Juliana Children's Hospital-Haga Teaching Hospital, The Hague, The Netherlands.; Stumpel C; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht, The Netherlands.; Stegmann S; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht, The Netherlands.; Bok LA; Department of Pediatrics, Máxima Medical Center, Veldhoven, The Netherlands.; Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Schaaf CP; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.

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

Heinen CA; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Losekoot M; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Sun Y; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Watson PJ; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Fairall L; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Joustra SD; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Zwaveling-Soonawala N; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Oostdijk W; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; van den Akker EL; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Alders M; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Santen GW; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; van Rijn RR; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Dreschler WA; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Surovtseva OV; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Biermasz NR; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Hennekam RC; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Wit JM; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Schwabe JW; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Boelen A; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; Fliers E; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.; van Trotsenburg AS; Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.; Ullah I; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Nasir A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Meijer CA; Department of Radiology, MC Haaglanden, The Hague, The Netherlands.; Laurense-Bik M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; den Dunnen JT; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Ruivenkamp CA; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Hoffer MJ; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Santen GW; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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

Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Fountain MD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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