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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 GoldbergOphthalmic Genetics|May 3, 2021
Inherited retinal diseases are the most common cause of blindness in the working-age population in AustraliaRachael C Heath Jeffery, Syed Aqif Mukhtar, Ian L McAllister, et al.Ophthalmic Genetics|May 5, 2021
A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndromeDeena Godfrey, Alcy Torres, Gena Heidary, et al.Ophthalmic Genetics|May 23, 2020
A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremiaKaylie D Jones, Alina Radziwon, David G Birch, et al.Ophthalmic Genetics|May 23, 2020
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapyThales A C De Guimaraes, Michalis Georgiou, Anthony G Robson, et al.Ophthalmic Genetics|May 21, 2020
A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathyStephanie N Kletke, Ajoy Vincent, Jason T Maynes, et al.Ophthalmic Genetics|May 21, 2020
Senior-Løken syndrome and intracranial hypertensionSu Ann Tay, Andrea L VincentOphthalmic Genetics|May 6, 2020
Living with type I Usher syndrome: insights from patients and their parentsAude Roborel de Climens, Béatrice Tugaut, Andrea Piscopo, et al.Ophthalmic Genetics|May 6, 2020
A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencingXue Jiang, Xin Jin, Nan Zhang, et al.Pageof 185