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Dual molecular diagnoses in a neurometabolic specialty clinic.
Hannah-Shmouni, Fady; Al-Shahoumi, Rashid; Brady, Lauren I; Wu, Lily; Frei, Julia; Tarnopolsky, Mark A.
Afiliação
  • Hannah-Shmouni F; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Al-Shahoumi R; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
  • Brady LI; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
  • Wu L; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
  • Frei J; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
  • Tarnopolsky MA; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
Am J Med Genet A ; 185(3): 766-773, 2021 03.
Article em En | MEDLINE | ID: mdl-33369152
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / Testes Genéticos / Distrofia Muscular Facioescapuloumeral / Mutação / Distrofia Miotônica Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / Testes Genéticos / Distrofia Muscular Facioescapuloumeral / Mutação / Distrofia Miotônica Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article