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A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
O'Gorman, Luke; Norman, Chelsea S; Michaels, Luke; Newall, Tutte; Crosby, Andrew H; Mattocks, Christopher; Cree, Angela J; Lotery, Andrew J; Baple, Emma L; Ratnayaka, J Arjuna; Baralle, Diana; Lee, Helena; Osborne, Daniel; Shawkat, Fatima; Gibson, Jane; Ennis, Sarah; Self, Jay E.
Afiliación
  • O'Gorman L; Human Development and Health, Faculty of Medicine, University of Southampton, MP808, Tremona Road, Southampton, SO16 6YD, UK.
  • Norman CS; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, MP806, Tremona Road, Southampton, SO16 6YD, UK.
  • Michaels L; Eye Unit, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, SO16 6YD, UK.
  • Newall T; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, MP806, Tremona Road, Southampton, SO16 6YD, UK.
  • Crosby AH; Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Exeter, EX2 5DW, UK.
  • Mattocks C; Human Development and Health, Faculty of Medicine, University of Southampton, MP808, Tremona Road, Southampton, SO16 6YD, UK.
  • Cree AJ; Wessex Investigational Science Hub, University Hospital Southampton, Tremona Road, Southampton, SO16 6YD, UK.
  • Lotery AJ; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, MP806, Tremona Road, Southampton, SO16 6YD, UK.
  • Baple EL; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, MP806, Tremona Road, Southampton, SO16 6YD, UK.
  • Ratnayaka JA; Eye Unit, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, SO16 6YD, UK.
  • Baralle D; Medical Research (Level 4), University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Lee H; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, MP806, Tremona Road, Southampton, SO16 6YD, UK.
  • Osborne D; Human Development and Health, Faculty of Medicine, University of Southampton, MP808, Tremona Road, Southampton, SO16 6YD, UK.
  • Shawkat F; Eye Unit, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, SO16 6YD, UK.
  • Gibson J; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, MP806, Tremona Road, Southampton, SO16 6YD, UK.
  • Ennis S; Eye Unit, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, SO16 6YD, UK.
  • Self JE; Biological Sciences, Faculty of Natural and Environmental Sciences, University of Southampton, Southampton, SO17 1BJ, UK.
Sci Rep ; 9(1): 13229, 2019 09 13.
Article en En | MEDLINE | ID: mdl-31519934
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biomarcadores / Pruebas Genéticas / Análisis de Secuencia de ADN / Nistagmo Congénito / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Sci Rep Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biomarcadores / Pruebas Genéticas / Análisis de Secuencia de ADN / Nistagmo Congénito / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Sci Rep Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido