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Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak, Christopher Cy; Leung, Gordon Kc; Mok, Gary Tk; Yeung, Kit San; Yang, Wanling; Fung, Cheuk-Wing; Chan, Sophelia Hs; Lee, So-Lun; Lee, Ni-Chung; Pfundt, Rolph; Lau, Yu-Lung; Chung, Brian Hy.
Afiliação
  • Mak CC; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Leung GK; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Mok GT; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Yeung KS; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Yang W; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Fung CW; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Chan SH; Department of Paediatrics & Adolescent Medicine, Duchess of Kent Children's Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Lee SL; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Lee NC; Department of Paediatrics & Adolescent Medicine, Duchess of Kent Children's Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Pfundt R; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Lau YL; Department of Paediatrics & Adolescent Medicine, Duchess of Kent Children's Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Chung BH; 3Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
NPJ Genom Med ; 3: 19, 2018.
Article em En | MEDLINE | ID: mdl-30109123
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2018 Tipo de documento: Article