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HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Reichert, Sara C; Li, Rachel; A Turner, Scott; van Jaarsveld, Richard H; Massink, Maarten P G; van den Boogaard, Marie-José H; Del Toro, Mireia; Rodríguez-Palmero, Agustí; Fourcade, Stéphane; Schlüter, Agatha; Planas-Serra, Laura; Pujol, Aurora; Iascone, Maria; Maitz, Silvia; Loong, Lucy; Stewart, Helen; De Franco, Elisa; Ellard, Sian; Frank, Julie; Lewandowski, Raymond.
  • Reichert SC; Department of Human and Molecular Genetics, Clinical Genetics Services, VCU Health, Richmond, Virginia, USA.
  • Li R; Department of Human and Molecular Genetics, Clinical Genetics Services, VCU Health, Richmond, Virginia, USA.
  • A Turner S; Department of Pathology, VCU Health, Richmond, Virginia, USA.
  • van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Massink MPG; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Del Toro M; Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autònoma de Barcelona, CIBERER, Barcelona, Spain.
  • Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat, Barcelona, Catalonia, Spain.
  • Fourcade S; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat, Barcelona, Catalonia, Spain.
  • Schlüter A; Centre for Biomedical Research on Rare Diseases (CIBERER), Institute Carlos III, Madrid, Spain.
  • Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat, Barcelona, Catalonia, Spain.
  • Pujol A; Centre for Biomedical Research on Rare Diseases (CIBERER), Institute Carlos III, Madrid, Spain.
  • Iascone M; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat, Barcelona, Catalonia, Spain.
  • Maitz S; Centre for Biomedical Research on Rare Diseases (CIBERER), Institute Carlos III, Madrid, Spain.
  • Loong L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat, Barcelona, Catalonia, Spain.
  • Stewart H; Centre for Biomedical Research on Rare Diseases (CIBERER), Institute Carlos III, Madrid, Spain.
  • De Franco E; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain.
  • Ellard S; Laboratorio Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Frank J; Clinical Pediatric Genetic Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.
  • Lewandowski R; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Clin Genet ; 98(1): 91-98, 2020 07.
Article en En | MEDLINE | ID: mdl-32335897
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ribonucleoproteínas Nucleares Heterogéneas / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ribonucleoproteínas Nucleares Heterogéneas / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2020 Tipo del documento: Article