Your browser doesn't support javascript.
loading
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
Balci, T B; Hartley, T; Xi, Y; Dyment, D A; Beaulieu, C L; Bernier, F P; Dupuis, L; Horvath, G A; Mendoza-Londono, R; Prasad, C; Richer, J; Yang, X-R; Armour, C M; Bareke, E; Fernandez, B A; McMillan, H J; Lamont, R E; Majewski, J; Parboosingh, J S; Prasad, A N; Rupar, C A; Schwartzentruber, J; Smith, A C; Tétreault, M; Innes, A M; Boycott, K M.
Afiliação
  • Balci TB; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Xi Y; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Dyment DA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Beaulieu CL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Bernier FP; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Dupuis L; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Horvath GA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Prasad C; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Richer J; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Yang XR; London Health Sciences Centre, Western University, London, Ontario, Canada.
  • Armour CM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Bareke E; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Fernandez BA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • McMillan HJ; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Lamont RE; Disciplines of Genetics and Medicine, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.
  • Majewski J; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Parboosingh JS; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Prasad AN; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Rupar CA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Schwartzentruber J; London Health Sciences Centre, Western University, London, Ontario, Canada.
  • Smith AC; London Health Sciences Centre, Western University, London, Ontario, Canada.
  • Tétreault M; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
Clin Genet ; 92(3): 281-289, 2017 Sep.
Article em En | MEDLINE | ID: mdl-28170084
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Família / Predisposição Genética para Doença / Estudos de Associação Genética / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Child, preschool / Female / Humans / Male País/Região como assunto: America do norte Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Família / Predisposição Genética para Doença / Estudos de Associação Genética / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Child, preschool / Female / Humans / Male País/Região como assunto: America do norte Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Canadá