Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Retinal Dystrophies and RDH12[original query] |
---|
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. American journal of human genetics 2004 Oct 75 (4): 639-46. Perrault Isabelle, Hanein Sylvain, Gerber Sylvie, Barbet Fabienne, Ducroq Dominique, Dollfus Helene, Hamel Christian, Dufier Jean-Louis, Munnich Arnold, Kaplan Josseline, Rozet Jean-Mich |
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. PloS one 2014 9 (8): e104281. Watson Christopher M, El-Asrag Mohammed, Parry David A, Morgan Joanne E, Logan Clare V, Carr Ian M, Sheridan Eamonn, Charlton Ruth, Johnson Colin A, Taylor Graham, Toomes Carmel, McKibbin Martin, Inglehearn Chris F, Ali Man |
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina (Philadelphia, Pa.) 2018 Aug . Zou Xuan, Fu Qing, Fang Sha, Li Hui, Ge Zhongqi, Yang Lizhu, Xu Mingchu, Sun Zixi, Li Huajin, Li Yumei, Dong Fangtian, Chen Rui, Sui Ruifa |
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. Ophthalmic genetics 2021 5 42 (4): 392-401. Zhu Luyao, Ouyang Wangbin, Zhang Minfang, Wang Hao, Li Shiying, Meng Xiaohong, Yin Zheng Q |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: