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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
Rehman, Atta Ur; Sepahi, Neda; Bedoni, Nicola; Ravesh, Zeinab; Salmaninejad, Arash; Cancellieri, Francesca; Peter, Virginie G; Quinodoz, Mathieu; Mojarrad, Majid; Pasdar, Alireza; Asad, Ali Ghanbari; Ghalamkari, Saman; Piran, Mehran; Piran, Mehrdad; Superti-Furga, Andrea; Rivolta, Carlo.
Afiliação
  • Rehman AU; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
  • Sepahi N; Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
  • Bedoni N; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
  • Ravesh Z; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
  • Salmaninejad A; Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Cancellieri F; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
  • Peter VG; Department of Ophthalmology, University of Basel, Basel, Switzerland.
  • Quinodoz M; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
  • Mojarrad M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
  • Pasdar A; Department of Ophthalmology, University of Basel, Basel, Switzerland.
  • Asad AG; Institute of Experimental Pathology, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.
  • Ghalamkari S; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
  • Piran M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
  • Piran M; Department of Ophthalmology, University of Basel, Basel, Switzerland.
  • Superti-Furga A; Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Rivolta C; Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Sci Rep ; 11(1): 19332, 2021 09 29.
Article em En | MEDLINE | ID: mdl-34588515
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Consanguinidade / Distrofias Retinianas Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Sci Rep Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suíça
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Consanguinidade / Distrofias Retinianas Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Sci Rep Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suíça