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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf, Ana; Johnson, Katherine; Bates, Adam; Phillips, Lauren; Chao, Katherine R; England, Eleina M; Laricchia, Kristen M; Mullen, Thomas; Valkanas, Elise; Xu, Liwen; Bertoli, Marta; Blain, Alison; Casasús, Ana B; Duff, Jennifer; Mroczek, Magdalena; Specht, Sabine; Lek, Monkol; Ensini, Monica; MacArthur, Daniel G; Straub, Volker.
Afiliación
  • Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Johnson K; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Bates A; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
  • Phillips L; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Chao KR; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • England EM; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Mullen T; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Valkanas E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Xu L; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Bertoli M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Blain A; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Casasús AB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Duff J; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Mroczek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Specht S; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Ensini M; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • MacArthur DG; Northern Genetics Service, Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Genet Med ; 22(9): 1478-1488, 2020 09.
Article en En | MEDLINE | ID: mdl-32528171
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Distrofia Muscular de Cinturas / Exoma Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Distrofia Muscular de Cinturas / Exoma Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido