부산대학교 도서관

Groeneweg, Stefan ; van Geest, Ferdy S ; Abacı, Ayhan ; Alcantud, Alberto ; Ambegaonkar, Gautam P ; Armour, Christine M ; Bakhtiani, Priyanka ; Barca, Diana ; Bertini, Enrico S ; van Beynum, Ingrid M ; Brunetti-Pierri, Nicola ; Bugiani, Marianna ; Cappa, Marco ; Cappuccio, Gerarda ; Castellotti, Barbara ; Castiglioni, Claudia ; Chatterjee, Krishna ; de Coo, Irenaeus F M ; Coutant, Régis ; Craiu, Dana ; Crock, Patricia ; DeGoede, Christian ; Demir, Korcan ; Dica, Alice ; Dimitri, Paul ; Dolcetta-Capuzzo, Anna ; Dremmen, Marjolein H G ; Dubey, Rachana ; Enderli, Anina ; Fairchild, Jan ; Gallichan, Jonathan ; George, Belinda ; Gevers, Evelien F ; Hackenberg, Annette ; Halász, Zita ; Heinrich, Bianka ; Huynh, Tony ; Kłosowska, Anna ; van der Knaap, Marjo S ; van der Knoop, Marieke M ; Konrad, Daniel ; Koolen, David A ; Krude, Heiko ; Lawson-Yuen, Amy ; Lebl, Jan ; Linder-Lucht, Michaela ; Lorea, Cláudia F ; Lourenço, Charles M ; Lunsing, Roelineke J ; Lyons, Greta ; Malikova, Jana ; Mancilla, Edna E ; McGowan, Anne ; Mericq, Veronica ; Lora, Felipe M ; Moran, Carla ; Müller, Katalin E ; Oliver-Petit, Isabelle ; Paone, Laura ; Paul, Praveen G ; Polak, Michel ; Porta, Francesco ; Poswar, Fabiano O ; Reinauer, Christina ; Rozenkova, Klara ; Menevse, Tuba S ; Simm, Peter ; Simon, Anna ; Singh, Yogen ; Spada, Marco ; van der Spek, Jet ; Stals, Milou A M ; Stoupa, Athanasia ; Subramanian, Gopinath M ; Tonduti, Davide ; Turan, Serap ; den Uil, Corstiaan A ; Vanderniet, Joel ; van der Walt, Adri ; Wémeau, Jean-Louis ; Wierzba, Jolante ; de Wit, Marie-Claire Y ; Wolf, Nicole I ; Wurm, Michael ; Zibordi, Federica ; Zung, Amnon ; Zwaveling-Soonawala, Nitash ; Visser, W Edward

In The Lancet Diabetes & Endocrinology July 2020 8(7):594-605

Groeneweg, Stefan ; Peeters, Robin P ; Moran, Carla ; Stoupa, Athanasia ; Auriol, Françoise ; Tonduti, Davide ; Dica, Alice ; Paone, Laura ; Rozenkova, Klara ; Malikova, Jana ; van der Walt, Adri ; de Coo, Irenaeus F M ; McGowan, Anne ; Lyons, Greta ; Aarsen, Femke K ; Barca, Diana ; van Beynum, Ingrid M ; van der Knoop, Marieke M ; Jansen, Jurgen ; Manshande, Martien ; Lunsing, Roelineke J ; Nowak, Stan ; den Uil, Corstiaan A ; Zillikens, M Carola ; Visser, Frank E ; Vrijmoeth, Paul ; de Wit, Marie Claire Y ; Wolf, Nicole I ; Zandstra, Angelique ; Ambegaonkar, Gautam ; Singh, Yogen ; de Rijke, Yolanda B ; Medici, Marco ; Bertini, Enrico S ; Depoorter, Sylvia ; Lebl, Jan ; Cappa, Marco ; De Meirleir, Linda ; Krude, Heiko ; Craiu, Dana ; Zibordi, Federica ; Oliver Petit, Isabelle ; Polak, Michel ; Chatterjee, Krishna ; Visser, Theo J ; Visser, W Edward

In The Lancet Diabetes & Endocrinology September 2019 7(9):695-706

Groeneweg S; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; van Geest FS; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; van der Most F; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Abela L; Department of Paediatric Neurology, Universitäts-Kinderspital Zürich, 8008 Zurich, Switzerland.; Alfieri P; Unit of Child Neuropsychiatry, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Bauer AJ; The Thyroid Center, Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Paediatrics, The University of Pennsylvania, Philadelphia, PA 19104, USA.; Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Cappa M; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Çelik N; Division of Paediatric Endocrinology, Department of Child Health and Diseases, Sivas Cumhuriyet University Faculty of Medicine, 58140 Sivas, Turkey.; de Coo IFM; Department of Paediatric Neurology, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Mental Health and Neuroscience Research Institute, Department Translational Genomics, Maastricht University Medical Centre, 6229 ET Maastricht, the Netherlands.; Dolcetta-Capuzzo A; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Department of Endocrinology and Internal Medicine, San Raffaele Scientific Institute, 20132 Milan, Italy.; Dubinski I; Centre for Paediatric Endocrinology Zurich (PEZZ), 8006 Zurich, Switzerland.; Division of Paediatric Endocrinology and Diabetology, Dr. von Hauner Children's Hospital, University Hospital (LMU), 80337 Munich, Germany.; Granadillo JL; Department of Paediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St Louis, MO 63110, USA.; Hoefsloot LH; Department of Clinical Genetics, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.; van der Knoop MM; Department of Paediatric Neurology, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Krude H; Institut für Experimentelle Pädiatrische Endokrinologie, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; McNerney KP; Department of Paediatrics, Division of Endocrinology, Diabetes, and Metabolism, Washington University School of Medicine, St Louis, MO 63110, USA.; Paone L; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Peeters RP; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Peters C; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; Schuelke M; Department or Neuropediatrics, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Schweizer U; Institut für Biochemie und Molekularbiologie, Rheinische Friedrich-Wilhelms-Universität Bonn, D-53115 Bonn, Germany.; Sprague JE; Department of Paediatrics, Division of Endocrinology, Diabetes, and Metabolism, Washington University School of Medicine, St Louis, MO 63110, USA.; van Trotsenburg ASP; Department of Paediatric Endocrinology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.; Amsterdam Reproduction and Development Research Institute, 1105 AZ Amsterdam, the Netherlands.; Wilpert NM; Department or Neuropediatrics, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; van Zutven LJCM; Department of Clinical Genetics, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Visser WE; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.

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

Groeneweg S; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.; van Geest FS; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.; Martín M; Department of Clinical Biochemistry (CIBICI-CONICET), Faculty of Chemical Sciences, National University of Córdoba, Córdoba, Argentina.; Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Dias M; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Frazer J; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Medina-Gomez C; Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.; Sterenborg RBTM; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Nijmegen, The Netherlands.; Wang H; Center for Multimodal Imaging and Genetics, University of California San Diego, La Jolla, CA, USA.; Dolcetta-Capuzzo A; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.; de Rooij LJ; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.; Teumer A; Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany.; DZHK (German Centre for Cardiovascular Research), Partner Site Greifswald, Greifswald, Germany.; Abaci A; Division of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey.; van den Akker ELT; Department of Paediatrics, Division of Endocrinology, Erasmus Medical Centre -Sophia Children's Hospital, Rotterdam, The Netherlands.; Ambegaonkar GP; Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Armour CM; Regional Genetics Program, Children's Hospital of Eastern Ontario and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Bacos I; Centrul Medical Dr. Bacos Cosma, Timisoara, Romania.; Bakhtiani P; University of Louisville, Louisville, KY, USA.; Childrens Hospital Los Angeles, Los Angeles, CA, USA.; Barca D; Carol Davila University of Medicine, Department of Clinical Neurosciences, Paediatric Neurology Discipline II, Bucharest, Romania.; Bauer AJ; Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; van den Berg SAA; Diagnostic Laboratory for Endocrinology, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.; van den Berge A; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.; Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital IRCCS, Rome, Italy.; van Beynum IM; Department of Pediatrics, Division of Pediatric Cardiology, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University, 80131, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.; Brunner D; Gottfried Preyer's Children Hospital, Vienna, Austria.; Cappa M; Research Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Cappuccio G; Department of Translational Medicine, Federico II University, 80131, Naples, Italy.; Neurological Research Institute and Baylor College of Medicine, Houston, TX, USA.; Castellotti B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Castiglioni C; Department of Neurology, Clinica Meds, School of Medicine, Universidad Finis Terrae, Santiago, Chile.; Chatterjee K; Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK.; Chesover A; Division of Endocrinology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, M5G 1×8, Canada.; Department of Endocrinology, Great Ormond Street Hospital for Children, London, UK.; Christian P; East Kent Hospitals University NHS Foundation Trust, Ashford, UK.; Coenen-van der Spek J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.; de Coo IFM; Department of Toxicogenomics, Unit Clinical Genomics, Maastricht University, MHeNs School for Mental Health and Neuroscience, Maastricht, The Netherlands.; Coutant R; Department of Pediatric Endocrinology and Diabetology, University Hospital, Angers, France.; Craiu D; Carol Davila University of Medicine, Department of Clinical Neurosciences, Paediatric Neurology Discipline II, Bucharest, Romania.; Crock P; John Hunter Children's Hospital, Hunter Medical Research Institute, University of Newcastle, New Lambton Heights, Australia.; DeGoede C; Department of Paediatric Neurology, Clinical Research Facility, Lancashire Teaching Hospitals NHS Trust, Lancashire, UK.; Demir K; Division of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey.; Dewey C; Genomics Institute Mary Bridge Children's Hospital, MultiCare Health System, Tacoma, WA, USA.; Dica A; Carol Davila University of Medicine, Department of Clinical Neurosciences, Paediatric Neurology Discipline II, Bucharest, Romania.; Dimitri P; The Department of Oncology and Metabolism, The University of Sheffield, Western Bank, Sheffield, S10, 2TH, UK.; Dremmen MHG; Division of Paediatric Radiology, Erasmus Medical Centre - Sophia's Children Hospital, Rotterdam, The Netherlands.; Dubey R; Medanta Superspeciality Hospital, Indore, India.; Enderli A; Department of Neuropediatrics, University Children's Hospital, University of Zurich, Zurich, Switzerland.; Fairchild J; Department of Diabetes and Endocrinology, Women's and Children's Hospital, North Adelaide, 5066, South Australia, Australia.; Gallichan J; Plymouth Hospitals NHS Trust, Plymouth, UK.; Garibaldi L; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; George B; Department of Endocrinology, St. John's Medical College Hospital, Bengaluru, India.; Gevers EF; Centre for Endocrinology, William Harvey Research institute, Queen Mary University of London, London, UK.; Greenup E; Department of Pediatrics, Division of Pediatric Endocrinology, University of Alabama at Birmingham, Birmingham, AL, USA.; Division of Pediatric Endocrinology, Department of Pediatrics, Orlando Health Arnold Palmer Hospital for Children, Orlando, FL, USA.; Hackenberg A; Department of Neuropediatrics, University Children's Hospital, University of Zurich, Zurich, Switzerland.; Halász Z; Pediatric Center, Semmelweis University Budapest, Budapest, Hungary.; Heinrich B; Department of Neuropediatrics, University Children's Hospital, University of Zurich, Zurich, Switzerland.; Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Huynh T; Department of Endocrinology & Diabetes, Queensland Children's Hospital, South Brisbane, Queensland, Australia.; Isaza AR; Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Klosowska A; Department of Pediatrics, Hematology and Oncology, Medical University of Gdańsk, Gdańsk, Poland.; van der Knoop MM; Department of Paediatric Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Konrad D; Division of Pediatric Endocrinology and Diabetology and Children's Research Center, University Children's Hospital, University of Zurich, Zurich, Switzerland.; Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.; Krude H; Institute of Experimental Paediatric Endocrinology, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Kulkarni A; Department of Paediatric Endocrinology, SRCC Children's Hospital, Mumbai, India.; Laemmle A; Institute of Clinical Chemistry and Department of Pediatrics, Inselspital, University Hospital Bern, Bern, Switzerland.; LaFranchi SH; Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health & Sciences University, Portland, OR, USA.; Lawson-Yuen A; Genomics Institute Mary Bridge Children's Hospital, MultiCare Health System, Tacoma, WA, USA.; Department of Genetics, Kaiser Permanente Washington, Seattle, WA, USA.; Lebl J; Department of Paediatrics, Second Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic.; Leeuwenburgh S; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.; Linder-Lucht M; Division of Neuropediatrics and Muscular Disorders, Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany.; López Martí A; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.; Lorea CF; Teaching Hospital of Universidade Federal de Pelotas, Pelotas, Brazil.; Federal University of Rio Grande do Sul, Porto Alegre-RS, Brazil.; Lourenço CM; National Reference Center for Rare Diseases, Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, Brazil.; Personalized Medicine area -Special Education Sector at DLE/Grupo Pardini, Rio de Janeiro, Brazil.; Lunsing RJ; Department of Child Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Lyons G; Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK.; Malikova JK; Department of Paediatrics, Second Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic.; Mancilla EE; Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; McCormick KL; Department of Pediatrics, Division of Pediatric Endocrinology, University of Alabama at Birmingham, Birmingham, AL, USA.; McGowan A; Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK.; Mericq V; Institute of Maternal and Child Research, University of Chile, Santiago, Chile, Department of Pediatrics, Clinica Las Condes, Santiago, Chile.; Lora FM; Pediatric Endocrinology Group, Sabara Children's Hospital, São Paulo, Brazil.; Moran C; Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK.; Muller KE; Heim Pal National Pediatric Institute, Budapest, Hungary.; Nicol LE; Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health & Sciences University, Portland, OR, USA.; Oliver-Petit I; Department of Paediatric Endocrinology and Genetics, Children's Hospital, Toulouse University Hospital, Toulouse, France.; Paone L; Endocrinology and Diabetology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Paul PG; Department of Paediatrics, Christian Medical College, Vellore, India.; Polak M; Paediatric Endocrinology, Diabetology and Gynaecology, Department, Necker Children's University Hospital, Imagine Institute Affiliate, Université de Paris Cité, Paris, France.; Porta F; Department of Paediatrics, AOU Città della Salute e della Scienza di Torino, University of Torino, Turin, Italy.; Poswar FO; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Reinauer C; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Dusseldorf, Germany.; Rozenkova K; Department of Paediatrics, Second Faculty of Medicine, Charles University, University Hospital Motol, Prague, Czech Republic.; Seckold R; John Hunter Children's Hospital, Hunter Medical Research Institute, University of Newcastle, New Lambton Heights, Australia.; Seven Menevse T; Marmara University School of Medicine Department of Pediatric Endocrinology, Istanbul, Turkey.; Simm P; Royal Children's Hospital/University of Melbourne, Parkville, Australia.; Simon A; Department of Paediatrics, Christian Medical College, Vellore, India.; Singh Y; Department of Paediatric Cardiology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Pediatrics, University of California - UC Davis Children's Hospital, Sacramento, CA, USA.; Spada M; Department of Paediatrics, AOU Città della Salute e della Scienza di Torino, University of Torino, Turin, Italy.; Stals MAM; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.; Stegenga MT; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.; Stoupa A; Paediatric Endocrinology, Diabetology and Gynaecology, Department, Necker Children's University Hospital, Imagine Institute Affiliate, Université de Paris Cité, Paris, France.; Subramanian GM; John Hunter Children's Hospital, Hunter Medical Research Institute, University of Newcastle, New Lambton Heights, Australia.; Szeifert L; Pediatric Center, Semmelweis University Budapest, Budapest, Hungary.; Tonduti D; Child Neurology Unit - C.O.A.L.A. (Center for diagnosis and treatment of leukodystrophies), V. Buzzi Children's Hospital, Milano, Italy.; Department of Clinical and Biomedical Science, Università degli Studi di Milano, Milano, Italy.; Turan S; Marmara University School of Medicine Department of Pediatric Endocrinology, Istanbul, Turkey.; Vanderniet J; John Hunter Children's Hospital, Hunter Medical Research Institute, University of Newcastle, New Lambton Heights, Australia.; van der Walt A; Private paediatric Neurology practice Dr A van der Walt, Durbanville, South Africa.; Wémeau JL; University of Lille, Lille, France.; van Wermeskerken AM; Department of Paediatrics, Flevoziekenhuis, Almere, The Netherlands.; Wierzba J; Department of Internal and Pediatric Nursing, Institute of Nursing and Midwifery, Medical University of Gdańsk, Gdańsk, Poland.; de Wit MY; Department of Paediatric Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, The Netherlands.; Wurm M; University Children's Hospital Regensburg (KUNO), University of Regensburg, Campus St. Hedwig, Regensburg, Germany.; Zibordi F; Child Neurology Unit, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy.; Zung A; Pediatric Endocrinology Unit, Kaplan Medical center, Rehovot and the Hebrew University of Jerusalem, Jerusalem, Israel.; Zwaveling-Soonawala N; Emma Children's Hospital, Department of Paediatric Endocrinology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Rivadeneira F; Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.; Meima ME; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.; Marks DS; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; Nicola JP; Department of Clinical Biochemistry (CIBICI-CONICET), Faculty of Chemical Sciences, National University of Córdoba, Córdoba, Argentina.; Chen CH; Center for Multimodal Imaging and Genetics, University of California San Diego, La Jolla, CA, USA.; Medici M; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.; Visser WE; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands. w.e.visser@erasmusmc.nl.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

van der Knoop MM; Department of Child Neurology, Sophia Children's Hospital, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Fukata Y; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan.; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Aichi 444-8585, Japan.; van Ierland Y; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.; Karimiani EG; Next Generation Genetic Polyclinic, Razavi International Hospital, Mashhad, Iran.; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's University, London SW17 0RE, UK.; Lehesjoki AE; Folkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00290, Finland.; Muona M; Folkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00290, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland, 00100 Helsinki, Finland.; Blueprint Genetics, 02150 Espoo, Finland.; Paetau A; Department of Pathology, Medicum, University of Helsinki, 00100 Helsinki, Finland.; Miyazaki Y; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan.; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Aichi 444-8585, Japan.; Hirano Y; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan.; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Bunkyo, Tokyo 113-8655, Japan.; Selim L; Division of Neurology and Metabolism, Kasr Al Ainy School of Medicine, Cairo University Children Hospital, Cairo, Egypt.; de França M; Department of Morphology and Genetics, Clinical Center of Medical Genetics Federal, University of São Paulo, São Paulo, Brazil.; Fock RA; Department of Morphology and Genetics, Clinical Center of Medical Genetics Federal, University of São Paulo, São Paulo, Brazil.; Beetz C; Centogene GmbH, 18055 Rostock, Germany.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.; Eaton AJ; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.; Morneau-Jacob FD; Division of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada.; Sagi-Dain L; Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine Technion-Israel Institute of Technology, Genetics Institute, Carmel Medical Center, Haifa, Israel.; Shemer-Meiri L; Pediatric Neurology Unit, Carmel Medical Center, Haifa, Israel.; Peleg A; Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine Technion-Israel Institute of Technology, Genetics Institute, Carmel Medical Center, Haifa, Israel.; Haddad-Halloun J; Department of Biology, Technion-Israel Institute of Technology, Haifa 3200003, Israel.; Kamphuis DJ; Department of Neurology, Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands.; Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, 2300 RA Leiden, The Netherlands.; Kurul SH; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir, Turkey.; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.; Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Lochmüller H; CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital; and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Spranger S; Praxis für Humangenetik, Klinikum Bremen-Mitte, Bremen 28209, Germany.; Overberg D; Department of Pediatrics, Klinikum Bremen-Mitte, Bremen 28205, Germany.; Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98195, USA.; Rad A; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen 72076, Germany.; Vona B; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen 72076, Germany.; Abdulwahad F; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.; Maddirevula S; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.; Povolotskaya IS; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow, Russia.; Voinova VY; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow, Russia.; Mental Health Research Center, Moscow 107076, Russia.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Alkuraya FS; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.; Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98195, USA.; Alfadhel M; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen 72076, Germany.; Striano P; IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.; Severino M; IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Fukata M; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan.; Department of Physiological Sciences, School of Life Science, SOKENDAI (The Graduate University for Advanced Studies), Okazaki, Aichi 444-8585, Japan.; Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.

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

de Bruijn MAAM; From the Departments of Neurology (M.A.A.M.d.B., D.E.M.B., P.A.E.S.S., M.J.T.), Pediatric Neurology (F.K.A., M.P.v.O., M.M.v.d.K., C.E.C.-B., R.F.N.), and Immunology (M.W.J.S.), Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Aarsen FK; From the Departments of Neurology (M.A.A.M.d.B., D.E.M.B., P.A.E.S.S., M.J.T.), Pediatric Neurology (F.K.A., M.P.v.O., M.M.v.d.K., C.E.C.-B., R.F.N.), and Immunology (M.W.J.S.), Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; van Oosterhout MP; From the Departments of Neurology (M.A.A.M.d.B., D.E.M.B., P.A.E.S.S., M.J.T.), Pediatric Neurology (F.K.A., M.P.v.O., M.M.v.d.K., C.E.C.-B., R.F.N.), and Immunology (M.W.J.S.), Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; van der Knoop MM; From the Departments of Neurology (M.A.A.M.d.B., D.E.M.B., P.A.E.S.S., M.J.T.), Pediatric Neurology (F.K.A., M.P.v.O., M.M.v.d.K., C.E.C.-B., R.F.N.), and Immunology (M.W.J.S.), Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Catsman-Berrevoets CE; From the Departments of Neurology (M.A.A.M.d.B., D.E.M.B., P.A.E.S.S., M.J.T.), Pediatric Neurology (F.K.A., M.P.v.O., M.M.v.d.K., C.E.C.-B., R.F.N.), and Immunology (M.W.J.S.), Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Schreurs MWJ; From the Departments of Neurology (M.A.A.M.d.B., D.E.M.B., P.A.E.S.S., M.J.T.), Pediatric Neurology (F.K.A., M.P.v.O., M.M.v.d.K., C.E.C.-B., R.F.N.), and Immunology (M.W.J.S.), Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Bastiaansen DEM; From the Departments of Neurology (M.A.A.M.d.B., D.E.M.B., P.A.E.S.S., M.J.T.), Pediatric Neurology (F.K.A., M.P.v.O., M.M.v.d.K., C.E.C.-B., R.F.N.), and Immunology (M.W.J.S.), Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Sillevis Smitt PAE; From the Departments of Neurology (M.A.A.M.d.B., D.E.M.B., P.A.E.S.S., M.J.T.), Pediatric Neurology (F.K.A., M.P.v.O., M.M.v.d.K., C.E.C.-B., R.F.N.), and Immunology (M.W.J.S.), Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Neuteboom RF; From the Departments of Neurology (M.A.A.M.d.B., D.E.M.B., P.A.E.S.S., M.J.T.), Pediatric Neurology (F.K.A., M.P.v.O., M.M.v.d.K., C.E.C.-B., R.F.N.), and Immunology (M.W.J.S.), Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.; Titulaer MJ; From the Departments of Neurology (M.A.A.M.d.B., D.E.M.B., P.A.E.S.S., M.J.T.), Pediatric Neurology (F.K.A., M.P.v.O., M.M.v.d.K., C.E.C.-B., R.F.N.), and Immunology (M.W.J.S.), Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands. m.titulaer@erasmusmc.nl.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology

Ismail SY; Duerinckx N; van der Knoop MM; Timmerman L; Weimar W; Dobbels F; Massey EK; Busschbach JJ

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0132144 Publication Model: Print Cited Medium: Internet ISSN: 1534-6080 (Electronic) Linking ISSN: 00411337 NLM ISO Abbreviation: Transplantation Subsets: MEDLINE