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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Hall, Hildegard Nikki; Parry, David; Halachev, Mihail; Williamson, Kathleen A; Donnelly, Kevin; Campos Parada, Jose; Bhatia, Shipra; Joseph, Jeffrey; Holden, Simon; Prescott, Trine E; Bitoun, Pierre; Kirk, Edwin P; Newbury-Ecob, Ruth; Lachlan, Katherine; Bernar, Juan; van Heyningen, Veronica; FitzPatrick, David R; Meynert, Alison.
Afiliação
  • Hall HN; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK nikki.hall@ed.ac.uk.
  • Parry D; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.
  • Halachev M; Illumina United Kingdom, Edinburgh, UK.
  • Williamson KA; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.
  • Donnelly K; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.
  • Campos Parada J; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.
  • Bhatia S; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.
  • Joseph J; Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit, Edinburgh, UK.
  • Holden S; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.
  • Prescott TE; East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge, UK.
  • Bitoun P; Department of Medical Genetics, Telemark Hospital, Skien, Norway.
  • Kirk EP; Consultations de Génétique médicale, Service de Pédiatrie, CHU Paris-Nord, Hôpital Jean Verdier, Bondy, France.
  • Newbury-Ecob R; Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.
  • Lachlan K; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
  • Bernar J; University Hospital Southampton, NHS Foundation Trust Wessex Clinical Genetics Service, Southampton, UK.
  • van Heyningen V; Department of Genetics, Hospital Ruber Internacional, Madrid, Spain.
  • FitzPatrick DR; MRC Human Genetics Unit, The University of Edinburgh, Edinburgh, UK.
  • Meynert A; Institute of Ophthalmology, University College London, London, UK.
J Med Genet ; 61(3): 250-261, 2024 Feb 21.
Article em En | MEDLINE | ID: mdl-38050128
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aniridia / Anormalidades do Olho Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aniridia / Anormalidades do Olho Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Reino Unido