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Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
Downie, Lilian; Halliday, Jane; Burt, Rachel; Lunke, Sebastian; Lynch, Elly; Martyn, Melissa; Poulakis, Zeffie; Gaff, Clara; Sung, Valerie; Wake, Melissa; Hunter, Matthew F; Saunders, Kerryn; Rose, Elizabeth; Lewis, Sharon; Jarmolowicz, Anna; Phelan, Dean; Rehm, Heidi L; Amor, David J.
Afiliação
  • Downie L; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
  • Halliday J; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Burt R; Royal Children's Hospital, Melbourne, VIC, Australia.
  • Lunke S; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Lynch E; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Martyn M; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Poulakis Z; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Gaff C; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Sung V; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
  • Wake M; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Hunter MF; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Saunders K; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
  • Rose E; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Lewis S; Melbourne Genomics Health Alliance, Melbourne, VIC, Australia.
  • Jarmolowicz A; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Phelan D; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Rehm HL; Melbourne Genomics Health Alliance, Melbourne, VIC, Australia.
  • Amor DJ; Royal Children's Hospital, Melbourne, VIC, Australia.
Eur J Hum Genet ; 28(5): 587-596, 2020 05.
Article em En | MEDLINE | ID: mdl-31827275
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Triagem Neonatal / Sequenciamento do Exoma / Perda Auditiva Tipo de estudo: Diagnostic_studies / Etiology_studies / Evaluation_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Triagem Neonatal / Sequenciamento do Exoma / Perda Auditiva Tipo de estudo: Diagnostic_studies / Etiology_studies / Evaluation_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália País de publicação: Reino Unido