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Ophthalmic Genetics|March 29, 2026
A novel case of Heimler syndrome in a young child with compound heterozygous PEX26 mutations: clinical and genetic insights with literature reviewAurore Aziz, Tristan Bernard-Cuisinier, Daniele Denis, et al.Ophthalmic Genetics|February 23, 2026
Streamlining the diagnostic and management pathways of patients with retinitis pigmentosaAlan Kimura, Alina Dumitrescu, Emma C Bedoukian, et al.Ophthalmic Genetics|March 18, 2026
A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathyBrandon C Huynh, Narin Sheri, Matthew D BensonOphthalmic Genetics|February 18, 2026
Novel, deep intronic RB1 variant exhibiting incomplete penetrance and a parent-of-origin effectRebecca Clark, Hilary Racher, Donco Matevski, et al.Ophthalmic Genetics|March 10, 2026
Somatic mosaicism of a novel USH2A variant in Usher syndromeCheng-Yao Zheng, Yu-Ying Jiang, Hong Chen, et al.Ophthalmic Genetics|May 25, 2026
Causal associations between sex hormones and keratoconus: a two-sample Mendelian randomization studyWei Zhao, Jie Feng, Xueting Chen, et al.Ophthalmic Genetics|February 8, 2014
Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11Jae-hyung Kim, Jung Min Ko, Hungwon TchahOphthalmic Genetics|April 23, 2014
Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 PatientsChristophe Orssaud, Olivier Roche, Jean-Louis Dufier, et al.Ophthalmic Genetics|April 24, 2014
Polymorphism of GST and FTO Genes in Risk Prediction of Cataract among a North Indian PopulationAnu Chandra, Syed Tasleem Raza, Shania Abbas, et al.Ophthalmic Genetics|March 13, 2014
Investigation of the Rho-kinase Gene Polymorphism in Primary Open-angle GlaucomaSeniz Demiryürek, Seydi Okumus, İbrahim Bozgeyik, et al.Pageof 185