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

Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesis.

对一种新型 TNFRSF9 变体进行临床和功能表征,该变体导致免疫失调,并易导致 EBV 驱动的淋巴瘤发生

Zhao Peiwei, Chen Kailan, Yang Li, Wan Chunhui, Zhang Lei, Luo Sukun, He Xuelian

Analysis of epilepsy-associated variants in HCN3 - Functional implications and clinical observations

HCN3基因中与癫痫相关的变异分析——功能意义和临床观察

Zhao, Peiwei; Xiong, Hongbo; Kuang, Gunagtao; Sun, Chen; Zhang, Xiankai; Huang, Yufeng; Luo, Sukun; Zhang, Lei; Jiang, Jun; He, Xuelian

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices

利用全基因组测序检测导致 MPS VI 的 ARSB 基因倒位断点:经验教训和最佳实践

Huang, Yufeng; Deng, Wenyue; Huang, Hui; Zhang, Xiankai; Chen, Xiaohong; Ye, Jian; Luo, Sukun; Yu, Ting; Yao, Hui; Du, Hao; He, Xuelian

A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review

中国CHEDDA综合征患者ATN1基因HX重复序列基序的新变异及其文献综述

Luo, Sukun; Hu, Yanqiu; Xiong, Ping; Tan, Li; Zhao, Peiwei; Huang, Yufeng; Xiao, Cuiping; Zhu, Hongmin; He, Xuelian

CCL19 and CCL28 Assist Herpes Simplex Virus 2 Glycoprotein D To Induce Protective Systemic Immunity against Genital Viral Challenge

CCL19 和 CCL28 辅助单纯疱疹病毒 2 型糖蛋白 D 诱导针对生殖器病毒攻击的保护性全身免疫

Yan, Yan; Hu, Kai; Fu, Ming; Deng, Xu; Luo, Sukun; Tong, Lina; Guan, Xinmeng; He, Siyi; Li, Chang; Jin, Wei; Du, Tao; Zheng, Zifeng; Zhang, Mudan; Liu, Yalan; Hu, Qinxue

Prenatal Genetic Diagnosis in Three Fetuses With Left Heart Hypoplasia (LHH) From Three Unrelated Families

对来自三个无关家庭的三名患有左心发育不全(LHH)的胎儿进行产前基因诊断

Luo, Sukun; Chen, Luyi; Wei, Weizhong; Tan, Li; Zhang, Meng; Duan, Zhengrong; Cao, Jiangxia; Zhou, Yan; Zhou, Aifen; He, Xuelian

A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.

一名 9 个月大的中国患者,因 YY1 基因的新型种系突变而患有 Gabriele-de Vries 综合征

Tan Li, Li Ying, Liu Fan, Huang Yufeng, Luo Sukun, Zhao Peiwei, Gu Weiyue, Lin Jun, Zhou Aifen, He Xuelian