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Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.
Abhyankar, Avinash; Lamendola-Essel, Michelle; Brennan, Kelly; Giordano, Jessica L; Esteves, Cecilia; Felice, Vanessa; Wapner, Ronald; Jobanputra, Vaidehi.
Afiliação
  • Abhyankar A; Molecular Diagnostics New York Genome Center New York city New York.
  • Lamendola-Essel M; Molecular Diagnostics New York Genome Center New York city New York.
  • Brennan K; Department of Obstetrics & Gynecology Columbia University Medical Center New York city New York.
  • Giordano JL; Department of Obstetrics & Gynecology Columbia University Medical Center New York city New York.
  • Esteves C; Molecular Diagnostics New York Genome Center New York city New York.
  • Felice V; Molecular Diagnostics New York Genome Center New York city New York.
  • Wapner R; Department of Obstetrics & Gynecology Columbia University Medical Center New York city New York.
  • Jobanputra V; Molecular Diagnostics New York Genome Center New York city New York.
Clin Case Rep ; 6(1): 200-205, 2018 01.
Article em En | MEDLINE | ID: mdl-29375865
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2018 Tipo de documento: Article