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Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.
Shovlin, Claire L; Almaghlouth, Fatma I; Alsafi, Ali; Coote, Nicola; Rennie, Catherine; Wallace, Gillian Mf; Govani, Fatima S; Research Consortium, Genomics England.
Afiliación
  • Shovlin CL; National Heart and Lung Institute, Imperial College London, London, UK c.shovlin@imperial.ac.uk.
  • Almaghlouth FI; Specialist Medicine, Imperial College Healthcare NHS Trust, London, UK.
  • Alsafi A; National Heart and Lung Institute, Imperial College London, London, UK.
  • Coote N; Imaging, Imperial College Healthcare NHS Trust, London, UK.
  • Rennie C; Paediatrics, Imperial College Healthcare NHS Trust, London, UK.
  • Wallace GM; ENT Surgery, Imperial College Healthcare NHS Trust, London, UK.
  • Govani FS; North Tees and Hartlepool NHS Foundation Trust, Hartlepool, UK.
  • Research Consortium GE; National Heart and Lung Institute, Imperial College London, London, UK.
J Med Genet ; 61(2): 182-185, 2024 Jan 19.
Article en En | MEDLINE | ID: mdl-37586837
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Telangiectasia Hemorrágica Hereditaria Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Telangiectasia Hemorrágica Hereditaria Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2024 Tipo del documento: Article País de afiliación: Reino Unido