Your browser doesn't support javascript.
loading
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
Mohan, Shruthi; Mayers, Megan; Weaver, Meredith; Baudet, Heather; De Biase, Irene; Goldstein, Jennifer; Mao, Rong; McGlaughon, Jennifer; Moser, Ann; Pujol, Aurora; Suchy, Sharon; Yuzyuk, Tatiana; Braverman, Nancy E.
Afiliación
  • Mohan S; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
  • Mayers M; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
  • Weaver M; American College of Medical Genetics and Genomics, Bethesda, MD, USA.
  • Baudet H; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
  • De Biase I; ARUP Laboratories, Salt Lake City, UT, USA.
  • Goldstein J; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
  • Mao R; ARUP Laboratories, Salt Lake City, UT, USA.
  • McGlaughon J; Invitae, San Francisco, CA, USA.
  • Moser A; Kennedy Krieger Institute, Baltimore, MD, USA.
  • Pujol A; Bellvitge Biomedical Research Institute (IDIBELL Instituto de Investigación Biomédica de Bellvitge), Barcelona, Spain.
  • Suchy S; GeneDx, Gaithersburg, MD, USA.
  • Yuzyuk T; ARUP Laboratories, Salt Lake City, UT, USA.
  • Braverman NE; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address: nancy.braverman@mcgill.ca.
Mol Genet Metab ; 139(3): 107604, 2023 07.
Article en En | MEDLINE | ID: mdl-37236006
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tamizaje Neonatal / Técnicas de Diagnóstico Molecular Tipo de estudio: Diagnostic_studies / Guideline Límite: Humans / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tamizaje Neonatal / Técnicas de Diagnóstico Molecular Tipo de estudio: Diagnostic_studies / Guideline Límite: Humans / Newborn Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos