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Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.
DiStefano, Marina T; Hemphill, Sarah E; Cushman, Brandon J; Bowser, Mark J; Hynes, Elizabeth; Grant, Andrew R; Siegert, Rebecca K; Oza, Andrea M; Gonzalez, Michael A; Amr, Sami S; Rehm, Heidi L; Abou Tayoun, Ahmad N.
Afiliação
  • DiStefano MT; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Hemphill SE; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Cushman BJ; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Bowser MJ; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Hynes E; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Grant AR; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Siegert RK; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Oza AM; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Gonzalez MA; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
  • Amr SS; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
  • Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts; Department of Medical and Population Genetics, The Broad Institute of the Massachusetts Instit
  • Abou Tayoun AN; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania; Genetics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Electronic address: ahmad.tayoun@ajch.ae.
J Mol Diagn ; 20(6): 789-801, 2018 11.
Article em En | MEDLINE | ID: mdl-30096381
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética Limite: Humans Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2018 Tipo de documento: Article
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: Variação Genética Limite: Humans Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2018 Tipo de documento: Article