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Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Sabir, Ataf H; Morley, Elizabeth; Sheikh, Jameela; Calder, Alistair D; Beleza-Meireles, Ana; Cheung, Moira S; Cocca, Alessandra; Jansson, Mattias; Lillis, Suzanne; Patel, Yogen; Yau, Shu; Hall, Christine M; Offiah, Amaka C; Irving, Melita.
Afiliação
  • Sabir AH; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK. ataf.sabir2@nhs.net.
  • Morley E; College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK. ataf.sabir2@nhs.net.
  • Sheikh J; The Royal Wolverhampton NHS Trust, Wolverhampton, UK.
  • Calder AD; College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • Beleza-Meireles A; Radiology Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
  • Cheung MS; Clinical Genetics Department, University Hospitals Bristol and Weston, Bristol, UK.
  • Cocca A; Department of Paediatric Endocrinology, Evelina London Children's Hospital, London, UK.
  • Jansson M; Department of Paediatric Endocrinology, Evelina London Children's Hospital, London, UK.
  • Lillis S; Viapath LLP, Guy's Hospital, 5th Floor Tower Wing, London, SE1 9RT, UK.
  • Patel Y; Viapath LLP, Guy's Hospital, 5th Floor Tower Wing, London, SE1 9RT, UK.
  • Yau S; Neurogenetics, Rare and Inherited Disease Laboratory, North Thames GLH, Barclay House, 37 Queen Square, London, WC1N 3BH, UK.
  • Hall CM; Viapath LLP, Guy's Hospital, 5th Floor Tower Wing, London, SE1 9RT, UK.
  • Offiah AC; Great Ormond Street Hospital for Children, London, UK.
  • Irving M; Emeritus Professor of Paediatric Radiology, Institute of Child Health, University of London, London, UK.
BMC Med Genomics ; 14(1): 148, 2021 06 06.
Article em En | MEDLINE | ID: mdl-34092239
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: BMC Med Genomics Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: BMC Med Genomics Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido