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Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.
de Goede, Christian; Yue, Wyatt W; Yan, Guanhua; Ariyaratnam, Shyamala; Chandler, Kate E; Downes, Laura; Khan, Nasaim; Mohan, Meyyammai; Lowe, Martin; Banka, Siddharth.
Afiliação
  • de Goede C; Department of Paediatric Neurology, Royal Preston Hospital, Lancashire Teaching Hospitals NHS Foundation Trust, Preston, UK; Faculty of Health and Medicine, Lancaster University, Lancaster, UK.
  • Yue WW; Structural Genomics Consortium, Old Road Campus Research Building, University of Oxford, Oxford, UK.
  • Yan G; Faculty of Life Sciences, University of Manchester, UK.
  • Ariyaratnam S; Department of Community and Neurodevelopmental Paediatrics, Royal Blackburn Hospital, East Lancashire Hospital NHS Trust, Blackburn, UK.
  • Chandler KE; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Downes L; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Khan N; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Mohan M; Department of Ophthalmology, Royal Blackburn Hospital, East Lancashire Hospital NHS Trust, Blackburn, UK.
  • Lowe M; Faculty of Life Sciences, University of Manchester, UK.
  • Banka S; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Univers
Eur J Paediatr Neurol ; 20(2): 286-295, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26748598
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Monoéster Fosfórico Hidrolases / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Qualitative_research Limite: Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Monoéster Fosfórico Hidrolases / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Qualitative_research Limite: Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article