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Ophthalmic Genetics|October 20, 2022
Ophthalmic manifestations of MEPAN syndromePriya R Gupta, Sidney M GospeOphthalmic Genetics|November 1, 2022
RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformationsLine Kessel, Mette Bertelsen, Karen GrønskovOphthalmic Genetics|November 3, 2022
Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastomaKenji Nakamichi, Andrew Stacey, Debarshi MustafiOphthalmic Genetics|September 3, 2025
Investigating motile ciliopathies in a pediatric case of an abnormal optic nerve headChioma Amuzie, Benjamin R Lin, Lauren Hucko, et al.Ophthalmic Genetics|June 17, 2020
Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseasesMital Shah, Morag Shanks, Emily Packham, et al.Ophthalmic Genetics|May 26, 2020
Associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosisValdas Stonys, Miglė Lindžiūtė, Alvita Vilkevičiūtė, et al.Ophthalmic Genetics|August 4, 2021
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinismJunwei Zhong, Bing You, Ke Xu, et al.Ophthalmic Genetics|August 25, 2022
Retinal detachment in a child with Frank-ter Haar syndromeOnur Furundaoturan, Mine Esen Baris, Durdugul Ayyıldız Emecen, et al.Ophthalmic Genetics|April 14, 2020
Evaluation of the association between five genetic variants and primary open-angle glaucoma in a Han Chinese populationKecheng Li, Chen Yang, Xiaoqin Wan, et al.Ophthalmic Genetics|May 20, 2021
Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain viewKirk Packo, Morton F GoldbergPageof 185