Unraveling the genetic causes in large pedigrees with gout by whole-exome sequencing

por Xia, Xiaoru, Jin, Jing, Chen, Zhen-Ji, Zhou, Zhenni, Chen, Hui, Zhang, Chunwu, Zhang, Linhua, Sun, Li
Publicado 2020

Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations

por Huang, Xiu-Feng, Huang, Zhi-Qin, Lin, Dan, Dai, Ma-Li, Wang, Qing-Feng, Chen, Zhen-Ji, Jin, Zi-Bing, Wang, Yuqin
Publicado 2017

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family

por Lin, Zhi-Bo, Chen, Zhen-Ji, Yang, Hui, Ding, Xing-Ru, Li, Jin, Pan, An-Peng, Sun, Hai-Sen, Yu, A.-Yong, Chen, Shi-Hao
Publicado 2023

Whole-Exome Sequencing Among School-Aged Children With High Myopia

por Yu, Xiangyi, Yuan, Jian, Chen, Zhen Ji, Li, Kai, Yao, Yinghao, Xing, Shilai, Xue, Zhengbo, Zhang, Yue, Peng, Hui, An, Gang, Yu, Xiaoguang, Qu, Jia, Su, Jianzhong
Publicado 2023

Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals

por Chen, Shihao, Li, Xing-Yong, Jin, Jia-Jia, Shen, Ren-Juan, Mao, Jian-Yang, Cheng, Fei-Fei, Chen, Zhen-Ji, Linardaki, Emmanouela, Voulgaraki, Stavroula, Aslanides, Ioannis M., Jin, Zi-Bing
Publicado 2021

Association of Polymorphisms in ZFHX1B and PAX6 With Anisometropia in Chinese Children: The Hong Kong Children Eye Genetics Study

por Wang, Yu Yao, Zhang, Xiu Juan, Kam, Ka Wai, Chen, Zhen Ji, Zhang, Yuzhou, Tang, Fang Yao, Li, Fen Fen, Tam, Pancy O. S., Yip, Wilson W. K., Young, Alvin L., Tham, Clement C., Pang, Chi Pui, Yam, Jason C., Chen, Li Jia
Publicado 2023

Multi-Polymorphism Analysis Reveals Joint Effects in Males With Chronic Central Serous Chorioretinopathy

por Chen, Zhen Ji, Ng, Danny S. C., Cen, Ling-Ping, Ng, Tsz Kin, Ho, Mary, Brelen, Marten E., Li, Tai-Ping, Lu, Shi Yao, Tam, Pancy O. S., Young, Alvin L., Chen, Weiqi, Yam, Jason C., Chen, Haoyu, Tham, Clement C., Pang, Chi Pui, Chen, Li Jia
Publicado 2023