Your browser doesn't support javascript.
loading
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best, Sunayna; Yu, Jing; Lord, Jenny; Roche, Matthew; Watson, Christopher Mark; Bevers, Roel P J; Stuckey, Alex; Madhusudhan, Savita; Jewell, Rosalyn; Sisodiya, Sanjay M; Lin, Siying; Turner, Stephen; Robinson, Hannah; Leslie, Joseph S; Baple, Emma; Toomes, Carmel; Inglehearn, Chris; Wheway, Gabrielle; Johnson, Colin A.
Afiliação
  • Best S; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
  • Yu J; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
  • Lord J; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Roche M; University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Watson CM; Faculty of Medicine, Human Development and Health, University of Southampton, Southampton, UK.
  • Bevers RPJ; Windsor House Group Practice, Mid Yorkshire Hospitals NHS Trust, Leeds, UK.
  • Stuckey A; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
  • Madhusudhan S; North East and Yorkshire Genomic Laboratory Hub, Central Lab, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
  • Jewell R; Genomics England, Queen Mary University of London, London, UK.
  • Sisodiya SM; Genomics England, Queen Mary University of London, London, UK.
  • Lin S; St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, UK.
  • Turner S; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
  • Robinson H; University College London (UCL) Queen Square Institute of Neurology, London, UK.
  • Leslie JS; Chalfont Centre for Epilepsy, Chalfont, UK.
  • Baple E; Department of Ophthalmology, Torbay and South Devon NHS Foundation Trust, Torquay, UK.
  • Toomes C; Department of Ophthalmology, Torbay and South Devon NHS Foundation Trust, Torquay, UK.
  • Inglehearn C; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Wheway G; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.
  • Johnson CA; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.
J Med Genet ; 59(12): 1151-1164, 2022 12.
Article em En | MEDLINE | ID: mdl-35764379
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Bardet-Biedl / Ciliopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En 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: Síndrome de Bardet-Biedl / Ciliopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article