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Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best, Sunayna; Lord, Jenny; Roche, Matthew; Watson, Christopher M; Poulter, James A; Bevers, Roel P J; Stuckey, Alex; Szymanska, Katarzyna; Ellingford, Jamie M; Carmichael, Jenny; Brittain, Helen; Toomes, Carmel; Inglehearn, Chris; Johnson, Colin A; Wheway, Gabrielle.
Afiliação
  • Best S; Division of Molecular Medicine, University of Leeds Leeds Institute of Medical Research at St James's, Leeds, West Yorkshire, UK.
  • Lord J; Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
  • Roche M; Department of Human Development and Health, University of Southampton Faculty of Medicine, Southampton, UK.
  • Watson CM; University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Poulter JA; Mid Yorkshire Hospitals NHS Trust, Wakefield, UK.
  • Bevers RPJ; Department of Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, West Yorkshire, UK.
  • Stuckey A; School of Medicine, University of Leeds, Leeds, UK.
  • Szymanska K; Division of Molecular Medicine, University of Leeds Leeds Institute of Medical Research at St James's, Leeds, West Yorkshire, UK.
  • Ellingford JM; Genomics England, Queen Mary University of London, London, UK.
  • Carmichael J; Genomics England, Queen Mary University of London, London, UK.
  • Brittain H; Division of Molecular Medicine, University of Leeds Leeds Institute of Medical Research at St James's, Leeds, West Yorkshire, UK.
  • Toomes C; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Inglehearn C; Manchester Centre for Genomic Medicine, Manchester, UK.
  • Johnson CA; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK.
  • Wheway G; Genomics England, Queen Mary University of London, London, UK.
J Med Genet ; 59(8): 737-747, 2022 08.
Article em En | MEDLINE | ID: mdl-34716235
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Anormalidades do Olho / Doenças Renais Císticas / Ciliopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Anormalidades do Olho / Doenças Renais Císticas / Ciliopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article