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Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Tan, Natalie B; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B; Yeung, Alison; Hunter, Matthew F; Amor, David J; Brown, Natasha J; Stutterd, Chloe A; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lynn S; White, Susan M; Lunke, Sebastian; Tan, Tiong Y.
Afiliação
  • Tan NB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Stapleton R; Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.
  • Stark Z; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Delatycki MB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Hunter MF; Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.
  • Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Brown NJ; Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.
  • Stutterd CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • McGillivray G; Monash Genetics, Monash Health, Clayton, VIC, Australia.
  • Yap P; Department of Paediatrics, Monash University, Clayton, VIC, Australia.
  • Regan M; Monash Genetics, Monash Health, Clayton, VIC, Australia.
  • Chong B; Department of Paediatrics, Monash University, Clayton, VIC, Australia.
  • Fanjul Fernandez M; Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.
  • Marum J; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Phelan D; Royal Children's Hospital, Parkville, VIC, Australia.
  • Pais LS; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • White SM; Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.
  • Lunke S; Royal Children's Hospital, Parkville, VIC, Australia.
  • Tan TY; Austin Health Clinical Genetics Service, Heidelberg, VIC, Australia.
Mol Genet Genomic Med ; 8(11): e1508, 2020 11.
Article em En | MEDLINE | ID: mdl-32969205
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Análise de Sequência de DNA / Doenças Raras / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Evaluation_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Análise de Sequência de DNA / Doenças Raras / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Evaluation_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article