Results 201 to 210 of about 12,927 (274)

Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy [PDF]

Quan Zhang, Junran Sun, Zishi Liu, Hong Wang, Hao Zhou, Wenjia Liu, Huixun Jia, Ningdong Li, Tong Li, Fenghua Wang, Xiaodong Sun   +10 more
openalex   +1 more source

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

American journal of ophthalmology-glaucoma, 2019
Zaina Bouzia, M. Georgiou, S. Hull, A. Robson, K. Fujinami, T. Rotsos, Nikolas Pontikos, G. Arno, A. Webster, A. Hardcastle, A. Fiorentino, M. Michaelides   +11 more
semanticscholar   +1 more source

Quasidominance in autosomal recessive RDH12-Leber congenital amaurosis. [PDF]

Ophthalmic Genet, 2020
Jauregui R, Cho A, Xu CL, Tanaka AJ, Sparrow JR, Tsang SH.   +5 more
europepmc   +1 more source

Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.

, 2017
Jinu Han, John Hoon Rim, In Sik Hwang, Jieun Kim, Saeam Shin, Seung‐Tae Lee, Jong Rak Choi   +6 more
openalex   +1 more source

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

, 2011
Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J. Fielding Hejtmancik   +8 more
openalex   +2 more sources

A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro

, 2014
Guoyan Mo, Qin Ding, Zhongshan Chen, Yunbo Li, Ming Yan, Lijing Bu, Yanping Song, Guohua Yin   +7 more
openalex   +2 more sources

Establishing an in vitro human Leber congenital amaurosis model system

, 2021
Kathleen R. Chirco, Shereen Chew, Jacque L. Duncan, Anthony T. Moore, Deepak A. Lamba   +4 more
openalex   +1 more source

Clinical and molecular analysis of leber congenital amaurosis.

, 2007
Sharola Dharmaraj
openalex   +1 more source

Expanding the genetic heterogeneity of retinitis pigmentosa and Leber congenital amaurosis

, 2014
Anna M. Siemiatkowska
openalex   +1 more source