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Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci.
Bhoj, Elizabeth J; Rajabi, Farrah; Baker, Samuel W; Santani, Avni; Tan, Wen-Hann.
Afiliação
  • Bhoj EJ; Division of Human Genetics, Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, 3401 Civic Center Boulevard, Philadelphia, PA, 19104, USA. Electronic address: bhoje@email.chop.edu.
  • Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Fegan 4, Boston, MA, 02115, USA. Electronic address: Farrah.Rajabi@childrens.harvard.edu.
  • Baker SW; Division of Genomics Diagnosis, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA, 19104, USA. Electronic address: bakersw@email.chop.edu.
  • Santani A; Division of Genomics Diagnosis, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA, 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, PA, USA. Electronic address:
  • Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Fegan 4, Boston, MA, 02115, USA. Electronic address: wen-hann.tan@childrens.harvard.edu.
Eur J Med Genet ; 63(6): 103903, 2020 Jun.
Article em En | MEDLINE | ID: mdl-32169557
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequência Conservada / Impressão Genômica / Loci Gênicos / Exoma / Doenças Genéticas Inatas 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: Sequência Conservada / Impressão Genômica / Loci Gênicos / Exoma / Doenças Genéticas Inatas Idioma: En Ano de publicação: 2020 Tipo de documento: Article