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Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Gillespie, Rachel L; O'Sullivan, James; Ashworth, Jane; Bhaskar, Sanjeev; Williams, Simon; Biswas, Susmito; Kehdi, Elias; Ramsden, Simon C; Clayton-Smith, Jill; Black, Graeme C; Lloyd, I Christopher.
Afiliação
  • Gillespie RL; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom.
  • O'Sullivan J; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom.
  • Ashworth J; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom; Manchester Royal Eye Hospital, Manchester Academic Health Science Cen
  • Bhaskar S; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom.
  • Williams S; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom.
  • Biswas S; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom; Manchester Royal Eye Hospital, Manchester Academic Health Science Cen
  • Kehdi E; Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, The University of Manchester, Central Manchester Foundation Trust, Manchester, United Kingdom.
  • Ramsden SC; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Central Manchester University
  • Clayton-Smith J; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Central Manchester University
  • Black GC; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Central Manchester University
  • Lloyd IC; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom; Manchester Royal Eye Hospital, Manchester Academic Health Science Cen
Ophthalmology ; 121(11): 2124-37.e1-2, 2014 Nov.
Article em En | MEDLINE | ID: mdl-25148791
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Análise Mutacional de DNA / Proteínas do Olho / Medicina de Precisão / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Tipo de estudo: Diagnostic_studies / Evaluation_studies / Guideline / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Análise Mutacional de DNA / Proteínas do Olho / Medicina de Precisão / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Tipo de estudo: Diagnostic_studies / Evaluation_studies / Guideline / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article