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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
Polla, D L; Bhoj, E J; Verheij, J B G M; Wassink-Ruiter, J S Klein; Reis, A; Deshpande, C; Gregor, A; Hill-Karfe, K; Silfhout, A T Vulto-van; Pfundt, R; Bongers, E M H F; Hakonarson, H; Berland, S; Gradek, G; Banka, S; Chandler, K; Gompertz, L; Huffels, S C; Stumpel, C T R M; Wennekes, R; Stegmann, A P A; Reardon, W; Leenders, E K S M; de Vries, B B A; Li, D; Zackai, E; Ragge, N; Lynch, S A; Cuddapah, S; van Bokhoven, H; Zweier, C; de Brouwer, A P M.
Afiliación
  • Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Bhoj EJ; CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil.
  • Verheij JBGM; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Wassink-Ruiter JSK; Department of Medical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Reis A; Department of Medical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Deshpande C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Gregor A; Department of Clinical Genetics, SE Thames Regional Genetics Service, Guy's Hospital, London, UK.
  • Hill-Karfe K; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Silfhout ATV; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Bongers EMHF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hakonarson H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Berland S; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Gradek G; Department of Medical Genetics, Haukeland University Hospital, Helse Bergen, Norway.
  • Banka S; Department of Medical Genetics, Haukeland University Hospital, Helse Bergen, Norway.
  • Chandler K; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Gompertz L; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Huffels SC; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Stumpel CTRM; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.
  • Wennekes R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Reardon W; Department of Radiology, Maastricht University Hospital, Maastricht University, Maastricht, The Netherlands.
  • Leenders EKSM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • de Vries BBA; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland.
  • Li D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Zackai E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Ragge N; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Lynch SA; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Cuddapah S; International Centre for Eye Health, London School of Hygiene and Tropical Medicine, London, UK.
  • van Bokhoven H; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, and Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland.
  • Zweier C; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Genet Med ; 23(4): 645-652, 2021 04.
Article en En | MEDLINE | ID: mdl-33244165
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual Ligada al Cromosoma X / Complejo Mediador / Trastornos del Neurodesarrollo / Discapacidad Intelectual Límite: Female / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual Ligada al Cromosoma X / Complejo Mediador / Trastornos del Neurodesarrollo / Discapacidad Intelectual Límite: Female / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos