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

Asynchronous Non-Fragile H(∞) Control for Time-Delay Markovian Jump Singularly Perturbed Systems with Variable Quantization Density and DoS Attack

针对具有可变量子化密度和拒绝服务攻击的时滞马尔可夫跳跃奇异摄动系统的异步非脆弱H(∞)控制

Qin, Yong; Wu, Xiru; Xiao, Haolin; Huang, Lihong; Lu, Yi

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

中国大型人群中LAMA2相关肌营养不良症的自然史和遗传学研究

Tan, Dandan; Ge, Lin; Fan, Yanbin; Chang, Xingzhi; Wang, Shuang; Wei, Cuijie; Ding, Juan; Liu, Aijie; Wang, Shuo; Li, Xueying; Gao, Kai; Yang, Haipo; Que, Chengli; Huang, Zhen; Li, Chunde; Zhu, Ying; Mao, Bing; Jin, Bo; Hua, Ying; Zhang, Xiaoli; Zhang, Bingbing; Zhu, Wenhua; Zhang, Cheng; Wang, Yanjuan; Yuan, Yun; Jiang, Yuwu; Rutkowski, Anne; Bönnemann, Carsten G; Wu, Xiru; Xiong, Hui

Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort

更正:Rett综合征队列的发病机制和遗传中的基因组嵌合现象

Zhang, Qingping; Yang, Xiaoxu; Wang, Jiaping; Li, Jiarui; Wu, Qixi; Wen, Yongxin; Zhao, Ying; Zhang, Xiaoying; Yao, He; Wu, Xiru; Yu, Shujie; Wei, Liping; Bao, Xinhua

Mosaicism and incomplete penetrance of PCDH19 mutations

PCDH19突变的嵌合现象和不完全外显率

Liu, Aijie; Yang, Xiaoxu; Yang, Xiaoling; Wu, Qixi; Zhang, Jing; Sun, Dan; Yang, Zhixian; Jiang, Yuwu; Wu, Xiru; Wei, Liping; Zhang, Yuehua

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients

中国髓鞘形成不足疾病:119例患者的临床和遗传异质性

Ji, Haoran; Li, Dongxiao; Wu, Ye; Zhang, Quanli; Gu, Qiang; Xie, Han; Ji, Taoyun; Wang, Huifang; Zhao, Lu; Zhao, Haijuan; Yang, Yanling; Feng, Hongchun; Xiong, Hui; Ji, Jinhua; Yang, Zhixian; Kou, Liping; Li, Ming; Bao, Xinhua; Chang, Xingzhi; Zhang, Yuehua; Li, Li; Li, Huijuan; Niu, Zhengping; Wu, Xiru; Xiao, Jiangxi; Jiang, Yuwu; Wang, Jingmin

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort

中国人群中出生第一年良性家族性癫痫的基因分析

Zeng, Qi; Yang, Xiaoling; Zhang, Jing; Liu, Aijie; Yang, Zhixian; Liu, Xiaoyan; Wu, Ye; Wu, Xiru; Wei, Liping; Zhang, Yuehua

Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation

中国Rett综合征(样)或非综合征型智力障碍患者中发现的新型MEF2C点突变:对基因型-表型相关性的启示

Wang, Jiaping; Zhang, Qingping; Chen, Yan; Yu, Shujie; Wu, Xiru; Bao, Xinhua; Wen, Yongxin

Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing

利用新一代测序技术检测到与肌肉-眼-脑疾病相关的POMGNT1基因新型拷贝数变异

Fu, Xiaona; Yang, Haipo; Jiao, Hui; Wang, Shuo; Liu, Aijie; Li, Xiaoqing; Xiao, Jiangxi; Yang, Yanling; Wu, Xiru; Xiong, Hui

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders

高效的拷贝数变异断点分析揭示了基因组疾病中出乎意料的结构复杂性以及剂量敏感基因与临床严重程度的相关性

Zhang, Ling; Wang, Jingmin; Zhang, Cheng; Li, Dongxiao; Carvalho, Claudia M B; Ji, Haoran; Xiao, Jianqiu; Wu, Ye; Zhou, Weichen; Wang, Hongyan; Jin, Li; Luo, Yang; Wu, Xiru; Lupski, James R; Zhang, Feng; Jiang, Yuwu

Familial cases and male cases with MECP2 mutations

家族性病例和携带 MECP2 突变的男性病例

Zhang, Qingping; Zhao, Ying; Bao, Xinhua; Luo, Jinjun; Zhang, Xiaoying; Li, Jiarui; Wei, Liping; Wu, Xiru