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Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.
Reeves, Melissa J; Goetz, Kerry E; Guan, Bin; Ullah, Ehsan; Blain, Delphine; Zein, Wadih M; Tumminia, Santa J; Hufnagel, Robert B.
Afiliación
  • Reeves MJ; Ophthalmic Genetics and Visual Function Branch, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Goetz KE; Office of the Director, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Ullah E; Ophthalmic Genetics and Visual Function Branch, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Blain D; Ophthalmic Genetics and Visual Function Branch, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Tumminia SJ; Office of the Director, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
  • Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute/National Institutes of Health, Bethesda, Maryland.
Hum Mutat ; 41(9): 1528-1539, 2020 09.
Article en En | MEDLINE | ID: mdl-32531846
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Estudios de Asociación Genética / Periferinas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Estudios de Asociación Genética / Periferinas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article