日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families

中国南方家族散发性和家族性先天性白内障的遗传分析和临床特征

Huang, Teng; Sun, Hai-Sen; Liu, Ya-Nan; Xie, Qiu-Ling; Liu, Yang; Miao, Xue-Chuan; Wu, Wenhui; Li, Jin

Identification of mutations associated with congenital cataracts in nineteen Chinese families.

对19个中国家庭中与先天性白内障相关的突变进行鉴定

Sun Hai-Sen, Huang Teng, Liu Zhe-Xuan, Xu Yi-Tong, Wang Ya-Qi, Wang Ming-Cheng, Zhang Shen-Rong, Xu Jia-Lin, Zhu Kai-Yi, Huang Wen-Kai, Huang Xiu-Feng, Li Jin

A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family

一种罕见的PAX6错义突变导致中国一个三代家族出现非典型性无虹膜症。

Lin, Zhi-Bo; Feng, Chun-Yun; Li, Jin; Pan, An-Peng; Sun, Hai-Sen; Yu, A-Yong; Chen, Shi-Hao

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

全外显子组测序揭示了FOXL2变异c.672_701dup在罕见睑裂狭窄、上睑下垂和内眦赘皮综合征家族中的表型谱扩展

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

Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome

常染色体显性遗传性白内障-小角膜综合征中发现新的SOX2突变

Lin, Zhi-Bo; Li, Jin; Ye, Lu; Sun, Hai-Sen; Yu, A-Yong; Chen, Shi-Hao; Li, Fen-Fen