Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

by Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Qingjiong Zhang
Published 2014-01-01

Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions

by Junwen Wang, Xueshan Xiao, Shiqiang Li, Panfeng Wang, Wenmin Sun, Qingjiong Zhang
Published 2021-02-01

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.

by Wei Xin, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Xiangming Guo, Qingjiong Zhang
Published 2015-01-01

Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa

by Zhen Yi, Jiamin Ouyang, Wenmin Sun, Shiqiang Li, Xueshan Xiao, Qingjiong Zhang
Published 2020-06-01

Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.

by Yadi Li, Jie Li, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo
Published 2017-01-01

Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review

by Junxing Yang, Lin Zhou, Lin Zhou, Jiamin Ouyang, Xueshan Xiao, Wenmin Sun, Shiqiang Li, Qingjiong Zhang
Published 2021-06-01

Effect of microstructure evolution in austenite zone on mechanical properties of Fe-10Mn-5.5Al-0.25C steel

by Wei Peng, Xinqiang Gao, Xiaofei Guo, Hengchang Lu, Guangshi Li, Xueshan Xiao, Dexiang Xu, Xicheng Wei, Han Dong
Published 2020-11-01

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

by Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J Fielding Hejtmancik
Published 2011-01-01

An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline

by Panfeng Wang, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Yuxi Long, Mengchu Liu, Yongyu Li, Jun Li, Yan Xu, Yan Xu, Qingjiong Zhang
Published 2021-06-01

Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients.

by A-Mei Zhang, Xiaoyun Jia, Rui Bi, Antonio Salas, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Xiangming Guo, Qing-Peng Kong, Qingjiong Zhang, Yong-Gang Yao
Published 2011-01-01

Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.

by Li Huang, Qingyan Zhang, Shiqiang Li, Liping Guan, Xueshan Xiao, Jianguo Zhang, Xiaoyun Jia, Wenmin Sun, Zhihong Zhu, Yang Gao, Ye Yin, Panfeng Wang, Xiangming Guo, Jun Wang, Qingjiong Zhang
Published 2013-01-01