Novel variants of ABCA4 in Han Chinese families with Stargardt disease

por Hu, Fang-Yuan, Gao, Feng-Juan, Li, Jian-kang, Xu, Ping, Wang, Dan-Dan, Zhang, Sheng-Hai, Wu, Ji-Hong
Publicado 2020

Mechanistic prediction of food effects for Compound A tablet using PBPK model

por Li, Xueqing, Shi, Lei, Tang, Xiuling, Wang, Qinghui, Zhou, Lun, Song, Wei, Feng, Zhijun, Ge, Jie, Li, Jian Kang, Yang, Lin, Wen, Aidong, Zhang, Yan
Publicado 2017

Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations

por Sun, Yan, Li, Jian‐kang, He, Wei, Wang, Zhuo‐shi, Bai, Jin‐yue, Xu, Ling, Xing, Bo, Zhang, Jian‐guo, Wang, Lusheng, Li, Wei, Chen, Fang
Publicado 2020

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

por Gao, Feng-Juan, Tian, Guo-Hong, Hu, Fang-Yuan, Wang, Dan-Dan, Li, Jian-Kang, Chang, Qing, Chen, Fang, Xu, Ge-Zhi, Liu, Wei, Wu, Ji-Hong
Publicado 2020

Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort

por Gao, Feng-Juan, Wang, Dan-Dan, Hu, Fang-Yuan, Xu, Ping, Chang, Qing, Li, Jian-Kang, Liu, Wei, Zhang, Sheng-Hai, Xu, Ge-Zhi, Wu, Ji-Hong
Publicado 2021

Insight into the phenolics and antioxidant activity of Indian jujube (Ziziphus mauritiana Lamk) peel and pulp subjected to the simulated digestion

por Wang, Zi-Tong, Liu, Yu-ping, Ma, Yi-Long, Pan, Shuang-Yi, Li, Jian-Kang, Shi, Shao-Jun, Wu, Zheng-Fang, Li, Zhi, Shang, Ya-Fang, Wei, Zhao-Jun
Publicado 2023

Genetic and clinical findings of panel‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa

por 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, Fang
Publicado 2020

Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome

por Li, Wei, Jiang, Xiao-Sen, Han, Dong-Ming, Gao, Jia-Yu, Yang, Zheng-Tao, Jiang, Li, Zhang, Qian, Zhang, Sheng-Hai, Gao, Ya, Wu, Ji-Hong, Li, Jian-Kang
Publicado 2022

Comprehensive analysis of genetic and clinical characteristics of 30 patients with X‐linked juvenile retinoschisis in China

por Gao, Feng‐Juan, Dong, Jian‐Hong, Wang, Dan‐Dan, Chen, Fang, Hu, Fang‐Yuan, Chang, Qing, Xu, Ping, Liu, Wei, Li, Jian‐Kang, Huang, Ying, Wu, Ji‐Hong, Xu, Ge‐Zhi
Publicado 2020

Expanding the clinical and genetic spectrum of Heimler syndrome

por Gao, Feng-Juan, Hu, Fang-Yuan, Xu, Ping, Qi, Yu-He, Li, Jian-Kang, Zhang, Yong-Jin, Chen, Fang, Chang, Qing, Song, Fang, Shen, Si-Mai, Xu, Ge-Zhi, Wu, Ji-Hong
Publicado 2019

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy

por Huang, Xiao-Yan, Zhuang, Hong, Wu, Ji-Hong, Li, Jian-Kang, Hu, Fang-Yuan, Zheng, Yu, Tellier, Laurent Christian Asker M., Zhang, Sheng-Hai, Gao, Feng-Juan, Zhang, Jian-Guo, Xu, Ge-Zhi
Publicado 2017

Panel‐based targeted exome sequencing reveals novel candidate susceptibility loci for age‐related cataracts in Chinese Cohort

por Li, Jian-Kang, Li, Li‐Li, Li, Wei, Wang, Zi‐Wei, Gao, Feng‐Juan, Hu, Fang-Yuan, Zhang, Sheng‐Hai, Qu, Shou-Fang, Huang, Jie, Wang, Lu-Sheng, Wu, Ji-Hong, Chen, Fang
Publicado 2020

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy

por Wang, Dan-Dan, Gao, Feng-Juan, Li, Jian-Kang, Chen, Fang, Hu, Fang-Yuan, Xu, Ge-Zhi, Zhang, Jian-Guo, Sun, Hao-Xiang, Zhang, Sheng-Hai, Xu, Ping, Tian, Guo-Hong, Wu, Ji-Hong
Publicado 2020

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

por Gao, Feng-Juan, Wang, Dan-Dan, Li, Jian-Kang, Hu, Fang-Yuan, Xu, Ping, Chen, Fang, Qi, Yu-He, Liu, Wei, Li, Wei, Zhang, Sheng-Hai, Chang, Qing, Xu, Ge-Zhi, Wu, Ji-Hong
Publicado 2021

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy

por Li, Jian-Kang, Li, Wei, Gao, Feng-Juan, Qu, Shou-Fang, Hu, Fang-Yuan, Zhang, Sheng-Hai, Li, Li-Li, Wang, Zi-Wei, Qiu, Yong, Wang, Lu-Sheng, Huang, Jie, Wu, Ji-Hong, Chen, Fang
Publicado 2020

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases

por Li, Wei, He, Xiang-Dong, Yang, Zheng-Tao, Han, Dong-Ming, Sun, Yan, Chen, Yan-Xian, Han, Xiao-Tong, Guo, Si-Cheng, Ma, Yu-Ting, Jin, Xin, Yang, Huan-Ming, Gao, Ya, Wang, Zhuo-Shi, Li, Jian-Kang, He, Wei
Publicado 2023

ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants

por Hu, Fang-Yuan, Li, Jian-kang, Gao, Feng-Juan, Qi, Yu-He, Xu, Ping, Zhang, Yong-Jin, Wang, Dan-Dan, Wang, Lu-Sheng, Li, Wei, Wang, Min, Chen, Fang, Shen, Si-Mai, Xu, Ge-Zhi, Zhang, Sheng-Hai, Chang, Qing, Wu, Ji-Hong
Publicado 2019

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort

por Li, Wei, Qu, Ning, Li, Jian-Kang, Li, Yu-Xin, Han, Dong-Ming, Chen, Yi-Xi, Tian, Le, Shao, Kang, Yang, Wen, Wang, Zhuo-Shi, Chen, Xuan, Jin, Xiao-Ying, Wang, Zi-Wei, Liang, Chen, Qian, Wei-Ping, Wang, Lu-Sheng, He, Wei
Publicado 2021