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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi, Eva; Clayton-Smith, Jill; Douzgou, Sofia; Ramsden, Simon C; Ingram, Stuart; Hall, Georgina; Hardcastle, Claire L; Fletcher, Tracy A; Taylor, Rachel L; Ellingford, Jamie M; Newman, William D; Fenerty, Cecilia; Sharma, Vinod; Lloyd, I Chris; Biswas, Susmito; Ashworth, Jane L; Black, Graeme C; Sergouniotis, Panagiotis I.
  • Lenassi E; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
  • Clayton-Smith J; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
  • Ramsden SC; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Ingram S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
  • Hall G; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Hardcastle CL; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
  • Fletcher TA; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Taylor RL; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Ellingford JM; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
  • Newman WD; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Fenerty C; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Sharma V; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Lloyd IC; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
  • Biswas S; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Ashworth JL; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
  • Black GC; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Sergouniotis PI; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Genet Med ; 22(4): 745-751, 2020 04.
Article en En | MEDLINE | ID: mdl-31848469

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Catarata / Anomalías del Ojo / Pruebas Genéticas Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Child, preschool / Humans / Infant / Newborn Idioma: En Año: 2020 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Catarata / Anomalías del Ojo / Pruebas Genéticas Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Child, preschool / Humans / Infant / Newborn Idioma: En Año: 2020 Tipo del documento: Article