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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Chen, Xiao; Sanchis-Juan, Alba; French, Courtney E; Connell, Andrew J; Delon, Isabelle; Kingsbury, Zoya; Chawla, Aditi; Halpern, Aaron L; Taft, Ryan J; Bentley, David R; Butchbach, Matthew E R; Raymond, F Lucy; Eberle, Michael A.
Afiliación
  • Chen X; Illumina Inc., San Diego, CA, USA.
  • Sanchis-Juan A; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, UK.
  • French CE; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
  • Connell AJ; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Delon I; Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Kingsbury Z; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Chawla A; Illumina Cambridge Ltd, Great Abington, Cambridge, UK.
  • Halpern AL; Illumina Inc., San Diego, CA, USA.
  • Taft RJ; Illumina Inc., San Diego, CA, USA.
  • Butchbach MER; Illumina Cambridge Ltd, Great Abington, Cambridge, UK.
  • Raymond FL; Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Eberle MA; Center for Pediatric Research, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
Genet Med ; 22(5): 945-953, 2020 05.
Article en En | MEDLINE | ID: mdl-32066871
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Child / Child, preschool / Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Child / Child, preschool / Humans Idioma: En Año: 2020 Tipo del documento: Article