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Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.
Bruun, Theodora U J; DesRoches, Caro-Lyne; Wilson, Diane; Chau, Vann; Nakagawa, Tadashi; Yamasaki, Masahiro; Hasegawa, Shinya; Fukao, Toshiyuki; Marshall, Christian; Mercimek-Andrews, Saadet.
Affiliation
  • Bruun TUJ; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • DesRoches CL; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Wilson D; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Chau V; Division of Neonatology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Nakagawa T; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Yamasaki M; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Hasegawa S; Division of Cell Proliferation, ART, Graduate School of Medicine, Tohoku University, Sendai, Japan.
  • Fukao T; Department of Health Chemistry, Hoshi University, Tokyo, Japan.
  • Marshall C; Department of Health Chemistry, Hoshi University, Tokyo, Japan.
  • Mercimek-Andrews S; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Genet Med ; 20(5): 486-494, 2018 04.
Article in En | MEDLINE | ID: mdl-28817111
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Genetic Predisposition to Disease / Genome-Wide Association Study / Infant, Newborn, Diseases Type of study: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male / Newborn / Pregnancy Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Canada
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Genetic Predisposition to Disease / Genome-Wide Association Study / Infant, Newborn, Diseases Type of study: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male / Newborn / Pregnancy Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Canada