Novel variants of ABCA4 in Han Chinese families with Stargardt disease

ανά Hu, Fang-Yuan, Gao, Feng-Juan, Li, Jian-kang, Xu, Ping, Wang, Dan-Dan, Zhang, Sheng-Hai, Wu, Ji-Hong
Τόπος έκδοσης BMC Med Genet (2020)

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

ανά 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
Τόπος έκδοσης Saudi J Biol Sci (2017)

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

ανά 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
Τόπος έκδοσης Mol Genet Genomic Med (2020)

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

ανά 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
Τόπος έκδοσης BMC Ophthalmol (2020)

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

ανά 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
Τόπος έκδοσης Mol Genet Genomic Med (2020)

A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer

ανά Zheng, Yu, Wang, Hai-Lin, Li, Jian-Kang, Xu, Li, Tellier, Laurent, Li, Xiao-Lin, Huang, Xiao-Yan, Li, Wei, Niu, Tong-Tong, Yang, Huan-Ming, Zhang, Jian-Guo, Liu, Dong-Ning
Τόπος έκδοσης Int J Ophthalmol (2018)

Expanding the clinical and genetic spectrum of Heimler syndrome

ανά 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
Τόπος έκδοσης Orphanet J Rare Dis (2019)

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

ανά 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
Τόπος έκδοσης Mol Vis (2017)

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

ανά 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
Τόπος έκδοσης Mol Genet Genomic Med (2020)

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy

ανά 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
Τόπος έκδοσης Invest Ophthalmol Vis Sci (2020)

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

ανά 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
Τόπος έκδοσης Orphanet J Rare Dis (2021)

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

ανά 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
Τόπος έκδοσης Transl Vis Sci Technol (2020)

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

ανά 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
Τόπος έκδοσης Front Genet (2019)

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

ανά 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
Τόπος έκδοσης Front Cell Dev Biol (2021)