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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 29, 2023. (Total: 223447Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Vision and EYS[original query]
EYS is a major gene for rod-cone dystrophies in France.
Human mutation 2010 May 31 (5): E1406-35.
Audo Isabelle, Sahel José-Alain, Mohand-Saïd Saddek, Lancelot Marie-Elise, Antonio Aline, Moskova-Doumanova Veselina, Nandrot Emeline F, Doumanov Jordan, Barragan Isabel, Antinolo Guillermo, Bhattacharya Shomi S, Zeitz Christi
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
Investigative ophthalmology & visual science 2014 Nov 55 (11): 7369-75.
Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi
Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa.
Molecular vision 2019 12 25 766-779.
Iwanami Masaki, Oishi Akio, Ogino Ken, Seko Yuko, Nishida-Shimizu Tomomi, Yoshimura Nagahisa, Kato Seis
Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
Molecular genetics & genomic medicine 2020 2 8 (4): e1184.
Sun Yan, Li Wei, Li Jian-Kang, Wang Zhuo-Shi, Bai Jin-Yue, Xu Ling, Xing Bo, Yang Wen, Wang Zi-Wei, Wang Lu-Sheng, He Wei, Chen Fa
Identification of Novel EYS Mutations by Targeted Sequencing Analysis.
Genetic testing and molecular biomarkers 2020 10 24 (11): 745-753.
Tian Wanli, Li Xiao, Li Ya, Wang Luyao, Yang Yeming, Sun Kuanxiang, Liu Wenjing, Zhou Bo, Lei Bo, Zhu Xianj
Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.
Translational vision science & technology 2022 7 11 (7): 6.
Lo Jui-En, Cheng Chia-Yi, Yang Chang-Hao, Yang Chung-May, Chen Yi-Chieh, Huang Yu-Shu, Chen Pei-Lung, Chen Ta-Chi
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