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

[Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation]

[m.3472T>C突变引起的Leber遗传性视神经病变的致病机制]

Zhang, Huanhuan; Shan, Wenqi; Yasheng, Meiheriayi; Guan, Minxin

A Critical E-box in Barhl1 3' Enhancer Is Essential for Auditory Hair Cell Differentiation.

Barhl1 3'增强子中的关键E-box对于听觉毛细胞分化至关重要

Hou Kun, Jiang Hui, Karim Md Rezaul, Zhong Chao, Xu Zhouwen, Liu Lin, Guan Minxin, Shao Jianzhong, Huang Xiao

Systematic analysis of the clinical and biochemical characteristics of maternally inherited hypertension in Chinese Han families associated with mitochondrial

对中国汉族家族中与线粒体相关的母系遗传性高血压的临床和生化特征进行系统分析

Liu, Yuqi; Zhu, Qinglei; Zhu, Chao; Wang, Xueping; Yang, Jie; Yin, Tong; Gao, Jinliao; Li, Zongbin; Ma, Qinghua; Guan, Minxin; Li, Yang; Chen, Yundai

Molecular characterization of a Chinese family carrying a novel C4329A mutation in mitochondrial tRNAIle and tRNAGln genes

对一个携带线粒体tRNAIle和tRNAGln基因中新型C4329A突变的中国家族进行分子特征分析

Liu, Yuqi; Li, Yang; Gao, Jinliao; Zhu, Chao; Lan, Yunfeng; Yang, Jie; Li, Zongbin; Guan, Minxin; Chen, Yundai

A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss

一个单倍群为B4C1C的六代中国家族表现出1555A > G诱发性听力损失的高外显率

Bai, Yan; Wang, Zhengmin; Dai, Wenjia; Li, Qingzhong; Chen, Guoling; Cong, Ning; Guan, Minxin; Li, Huawei