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Plos One|June 19, 2013
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesLi Huang, Qingyan Zhang, Shiqiang Li, et al.Acta Ophthalmologica|December 30, 2018
Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patientsJingyi Luo, Mingkai Lin, Xinxing Guo, et al.Investigative Ophthalmology & Visual Science|May 24, 2022
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary CenterYingwei Wang, Wenmin Sun, Jing Zhou, et al.Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|September 16, 2025
Retinitis Pigmentosa-Associated Gene TRIM49 Regulates ULK1-Mediated Autophagy and Photoreceptor Phagocytosis by the Retinal Pigment EpitheliumZhen Yi, Chaojuan Wen, Han Du, et al.American Journal of Human Genetics|March 26, 2004
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2Anren Li, Xiaodong Jiao, Francis L Munier, et al.Proceedings of the National Academy of Sciences of the United States of America|April 5, 2017
Trio-based exome sequencing arrests de novo mutations in early-onset high myopiaZi-Bing Jin, Jinyu Wu, Xiu-Feng Huang, et al.American Journal of Human Genetics|June 7, 2011
Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese populationYi Shi, Jia Qu, Dingding Zhang, et al.Pageof 17