HuGE Literature Finder
Records 1-6
|
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 |
|
Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.
Journal of human genetics 2016 Jul . Sundaramurthy Srilekha, Swaminathan Meenakshi, Sen Parveen, Arokiasamy Tharigopala, Deshpande Swati, John Neetha, Gadkari Rupali A, Mannan Ashraf U, Soumittra Nagasa |
|
Molecular genetics of cone-rod dystrophy in Chinese patients: new data from 61 probands and mutation overview of 163 probands.
Experimental eye research 2016 Mar . Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio |
|
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
Journal of ophthalmology 2015 2015 942740. Gong Bo, Wei Bo, Huang Lulin, Hao Jilong, Li Xiulan, Yang Yin, Zhou Yu, Hao Fang, Cui Zhihua, Zhang Dingding, Wang Le, Zhang Houb |
|
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Ophthalmology 2010 Nov 117 (11): 2169-77.e3. Clark Graeme Richard, Crowe Paul, Muszynska Dorota, O'Prey Dominic, O'Neill Justin, Alexander Sharon, Willoughby Colin Eric, McKay Gareth John, Silvestri Giuliana, Simpson David Arth |
|
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Molecular vision 2009 15 1781-7. Sundaresan Periasamy, Vijayalakshmi P, Thompson Stewart, Ko Audrey C, Fingert John H, Stone Edwin |
- Page last reviewed:Mar 16, 2019
- Page last updated:Jun 01, 2020
- Content source: