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POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Rossi, Alessandra; Blok, Lot Snijders; Neuser, Sonja; Klöckner, Chiara; Platzer, Konrad; Faivre, Laurence Olivier; Weigand, Heike; Dentici, Maria L; Tartaglia, Marco; Niceta, Marcello; Alfieri, Paolo; Srivastava, Siddharth; Coulter, David; Smith, Lacey; Vinorum, Kristin; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Torun, Deniz; Arslan, Mutluay; Lauridsen, Mathilde F; Murch, Oliver; Irving, Rachel; Lynch, Sally A; Mehta, Sarju G; Carmichael, Jenny; Zonneveld-Huijssoon, Evelien; de Vries, Bert; Kleefstra, Tjitske; Johannesen, Katrine M; Westphall, Ian T; Hughes, Susan S; Smithson, Sarah; Evans, Julie; Dudding-Byth, Tracy; Simon, Marleen; van Binsbergen, Ellen; Herkert, Johanna C; Beunders, Gea; Oppermann, Henry; Bakal, Mert; Møller, Rikke S; Rubboli, Guido; Bayat, Allan.
Afiliación
  • Rossi A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.
  • Blok LS; Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Pavia, Italy.
  • Neuser S; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Faivre LO; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Weigand H; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Centre Hospitalier Universitaire Dijon, Dijon, France.
  • Dentici ML; Genetics of Developmental Disorders Team, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD, Dijon, France.
  • Tartaglia M; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. von Hauner's Children's Hospital, University of Munich, Munich, Germany.
  • Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Alfieri P; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Srivastava S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Coulter D; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Smith L; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Vinorum K; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Cappuccio G; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Brunetti-Pierri N; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Torun D; Rikshospitalet, Oslo University Hospital, Oslo, Norway.
  • Arslan M; Department of Translational Medicine, Federico II University, Naples, Italy.
  • Lauridsen MF; Telethon Institute of Genetics and Medicine, Naples, Italy.
  • Murch O; Department of Translational Medicine, Federico II University, Naples, Italy.
  • Irving R; Telethon Institute of Genetics and Medicine, Naples, Italy.
  • Lynch SA; Scuola Superiore Meridionale, School for Advanced Studies, Naples, Italy.
  • Mehta SG; Department of Medical Genetics, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey.
  • Carmichael J; Department of Pediatric Neurology, Gülhane Faculty of Medicine, University of Health Sciences, Ankara, Turkey.
  • Zonneveld-Huijssoon E; Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark.
  • de Vries B; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK.
  • Kleefstra T; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK.
  • Johannesen KM; Children's Health Ireland at Crumlin, Dublin 12, Ireland.
  • Westphall IT; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Hughes SS; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Smithson S; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Evans J; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Dudding-Byth T; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Simon M; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark.
  • van Binsbergen E; Department of Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Herkert JC; Department of Paediatrics, Copenhagen University Hospital, Hvidovre, Denmark.
  • Beunders G; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.
  • Oppermann H; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
  • Bakal M; Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol, UK.
  • Møller RS; NSW Genetics of Learning Disability (GOLD) Service, University of Newcastle, New South Wales, Australia.
  • Rubboli G; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Bayat A; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Clin Genet ; 104(2): 186-197, 2023 08.
Article en En | MEDLINE | ID: mdl-37165752
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Epilepsia / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Dinamarca
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Epilepsia / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: Dinamarca