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The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.
Weiner, Chen; Hecht, Idan; Rotenstreich, Ygal; Guttman, Sharon; Or, Lior; Morad, Yair; Shapira, Guy; Shomron, Noam; Pras, Eran.
Afiliação
  • Weiner C; Matlow's Ophthalmo-genetic Laboratory, Department of Ophthalmology, Shamir Medical Center (formerly Assaf Harofeh Medical Center), Zerifin, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: w24369@gmail.com.
  • Hecht I; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Ophthalmology, Shamir Medical Center, (formerly Assaf Harofeh Medical Center), Zerifin, Israel.
  • Rotenstreich Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Electrophysiology Clinic and Retinal Research Laboratory, Goldschleger Eye Institute, Sheba Medical Center, Israel.
  • Guttman S; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Ophthalmology, Shamir Medical Center, (formerly Assaf Harofeh Medical Center), Zerifin, Israel.
  • Or L; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Ophthalmology, Shamir Medical Center, (formerly Assaf Harofeh Medical Center), Zerifin, Israel.
  • Morad Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Ophthalmology, Shamir Medical Center, (formerly Assaf Harofeh Medical Center), Zerifin, Israel.
  • Shapira G; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Shomron N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel; Edmond J. Safra Center of Bioinformatics, Tel Aviv University, Tel Aviv, Israel.
  • Pras E; Matlow's Ophthalmo-genetic Laboratory, Department of Ophthalmology, Shamir Medical Center (formerly Assaf Harofeh Medical Center), Zerifin, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Ophthalmology, Shamir Medical Center, (formerly Assaf Harofeh Medical
Exp Eye Res ; 193: 107958, 2020 04.
Article em En | MEDLINE | ID: mdl-32032626
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nervo Óptico / DNA / Nistagmo Congênito / Polimorfismo de Nucleotídeo Único / Sistemas de Transporte de Aminoácidos Neutros / Fóvea Central Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Exp Eye Res Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nervo Óptico / DNA / Nistagmo Congênito / Polimorfismo de Nucleotídeo Único / Sistemas de Transporte de Aminoácidos Neutros / Fóvea Central Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Exp Eye Res Ano de publicação: 2020 Tipo de documento: Article