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

Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review

基于大型内部数据集和文献综述的FRMD7相关婴儿眼球震颤的遗传图谱和临床特征分析

Liu, Shu; Li, Shiqiang; Wang, Yingwei; Sun, Wenmin; Hejtmancik, J Fielding; Zhang, Qingjiong

Clinical and Genetic Characteristics of a Chinese Occult Maculopathy Cohort

中国隐匿性黄斑病变队列的临床和遗传特征

Jiang, Zixuan; Ouyang, Jiamin; Yi, Zhen; Sun, Wenmin; Xiao, Xueshan; Jia, Xiaoyun; Li, Shiqiang; Wang, Panfeng; Zhang, Qingjiong

Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes

826个家族视神经萎缩的临床和遗传图谱:来自50个核基因的启示

Zheng, Yuxi; Wang, Panfeng; Li, Shiqiang; Long, Yuxi; Jiang, Yi; Guo, Dongwei; Jia, Xiaoyun; Liu, Mengchu; Zeng, Yiyan; Xiao, Xueshan; Hejtmancik, J Fielding; Zhang, Qingjiong; Sun, Wenmin

Clinical and Genetic Characteristics of 18 Patients from Southeast China with ABCA4-Associated Stargardt Disease.

中国东南地区18例ABCA4相关Stargardt病患者的临床和遗传特征

Liu Xinyu, Liu Zehao, Cui Jinli, Tan Chen, Sun Wenmin, Lin Ying

Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism

75个中国GPR143相关眼白化病家族的虹膜和眼底色素沉着模式

Chen, Shuowei; Yi, Zhen; Zheng, Yuxi; Jiang, Yi; Guo, Dongwei; Jia, Xiaoyun; Li, Shiqiang; Xiao, Xueshan; Zhang, Qingjiong; Sun, Wenmin

Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia

在75个单侧高度近视家族中,确定了导致严重后果的临床和遗传风险因素

Jiang, Yi; Xiao, Xueshan; Sun, Wenmin; Wang, Yingwei; Li, Shiqiang; Jia, Xiaoyun; Wang, Panfeng; Hejtmancik, J Fielding; Zhang, Qingjiong

Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families

基于156个家庭患者队列的晶状体异位症临床和遗传特征

Guo, Dongwei; Li, Shiqiang; Xiao, Xueshan; Jiang, Yi; Wang, Yingwei; Jin, Guangming; Wang, Junwen; Ouyang, Jiamin; Jia, Xiaoyun; Sun, Wenmin; Wang, Panfeng; Zheng, Danying; Zhang, Qingjiong

The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families

164个中国家族PAX6相关眼病的系统性基因型-表型特征分析

Jiang, Yi; Yi, Zhen; Zheng, Yuxi; Ouyang, Jiamin; Guo, Dongwei; Li, Shiqiang; Xiao, Xueshan; Wang, Panfeng; Sun, Wenmin; Zhang, Qingjiong

Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic

视网膜病变作为遗传性免疫疾病的首发症状:六个家族的报告及眼科诊所面临的挑战

Wang, Yingwei; Jiang, Yi; Wang, Junwen; Li, Shiqiang; Jia, Xiaoyun; Xiao, Xueshan; Sun, Wenmin; Wang, Panfeng; Zhang, Qingjiong

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review

基于大型中国队列研究和文献综述,对PRPH2相关疾病的基因型-表型相关性有了新的认识

Wang, Yingwei; Wang, Junwen; Jiang, Yi; Zhu, Di; Ouyang, Jiamin; Yi, Zhen; Li, Shiqiang; Jia, Xiaoyun; Xiao, Xueshan; Sun, Wenmin; Wang, Panfeng; Zhang, Qingjiong