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Ophthalmic Genetics|January 11, 2026
A novel variant in the G-protein receptor kinase (GRK1) causes Oguchi syndrome, type II, in an Egyptian familyNada Fathy, Nagham M Elbagoury, Mohamed S Abdel-Hamid, et al.
Ophthalmic Genetics|January 16, 2026
A bird's eye view on potential molecular prognostic markers in retinoblastoma: insights for precision oncologyIrene Titin Darajati, Eddy Supriyadi, Petrus Gandi Purwosatrio, et al.
Ophthalmic Genetics|January 9, 2025
Modifiers and their impact on inherited retinal diseases: a reviewLaura M Ford, Simon M Petersen-Jones
Ophthalmic Genetics|January 7, 2025
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international studyOgul E Uner, Radwa Elsharawi, Margaret Reynolds, et al.
Ophthalmic Genetics|December 12, 2023
Male infertility may be associated with IFT140-related autosomal recessive retinitis pigmentosaLeslie Huang, Elizabeth Kellom, Kimberly Stepien
Ophthalmic Genetics|December 15, 2023
Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and KRAS mutation: a current review and novel case reportLauren B Yeager, Daniel S Casper, Armando Del Portillo, et al.
Ophthalmic Genetics|November 24, 2023
Association of GNB3, ACE polymorphisms with POAG and NTGAlexander N Samoylov, Polina Tumanova, Sofya A Pankratova, et al.
Ophthalmic Genetics|January 18, 2024
Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literatureFatemeh Abdi, Sadaf Parvin, Vahid Zare Hosseinabadi, et al.
Ophthalmic Genetics|January 26, 2024
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skippingWilliam J Waldock, Laura J Taylor, Sian Sperring, et al.
Ophthalmic Genetics|January 10, 2024
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of femalesSekita Dalsgård Petersen, Mohamed Belmouhand, Jens Michael Hertz, et al.
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