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De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Yates, T Michael; Vasudevan, Pradeep C; Chandler, Kate E; Donnelly, Deirdre E; Stark, Zornitza; Sadedin, Simon; Willoughby, Josh; Balasubramanian, Meena.
Affiliation
  • Yates TM; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Vasudevan PC; Department of Clinical Genetics, University Hospitals of Leicester, Leicester, UK.
  • Chandler KE; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland, UK.
  • Donnelly DE; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester, UK.
  • Stark Z; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Sadedin S; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Willoughby J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Balasubramanian M; DDD Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Am J Med Genet A ; 173(11): 3003-3012, 2017 Nov.
Article in En | MEDLINE | ID: mdl-28944577
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Seizures / Developmental Disabilities / Heterogeneous-Nuclear Ribonucleoprotein U / Neurodevelopmental Disorders / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: United kingdom Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Seizures / Developmental Disabilities / Heterogeneous-Nuclear Ribonucleoprotein U / Neurodevelopmental Disorders / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: United kingdom Country of publication: United States