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

Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy

光学基因组图谱:揭示复杂变异并实现肌营养不良症的精准诊断

Mai, Jiahui; Duan, Jing; Chen, Xiaoyu; Liu, Liqin; Liang, Dachao; Fu, Tao; Lu, Gang; Chan, Wai Yee; Luo, Xufeng; Wen, Feiqiu; Liao, Jianxiang; Li, Zhuo; Lu, Xinguo

Efficacy and tolerability of perampanel as add-on therapy in Dravet syndrome: A prospective real-world study

帕拉帕尼作为Dravet综合征辅助治疗的疗效和耐受性:一项前瞻性真实世界研究

Wang, Han; Chen, Hong; Ding, Xin; Cao, Xueyan; Mai, Jiahui; Zou, Huafang; Zou, Dongfang; Zhu, Yanwei; Liao, Jianxiang; Cao, Dezhi

Patient Version of Guideline for Fibromyalgia (2025 Edition)

纤维肌痛患者版指南(2025版)

Zhang, Zhiling; Zhou, Pengxiang; He, Na; Wu, Ziyang; Bo, Shining; Chen, Chao; Chi, Shuhong; Hou, Ning; Hu, Ji; Jing, Fanbo; Li, Baohua; Li, Ling; Li, Shuiqing; Li, Yanni; Lin, Yang; Luo, Qipeng; Mai, Jiahui; Mu, Rong; Ouyang, Ronghui; Qin, Wangjun; Shao, Rong; Shen, Jianghua; Sun, Xiaoying; Wang, Tianlin; Wu, Junyan; Xie, Han; Xu, Xiaoyan; Yan, Yingying; Yang, Kehu; Yao, Zhongqiang; Ye, Chaoqun; Yuan, Yonggui; Zhu, Jintao; Zhao, Rongsheng; Zhang, Daying; Liang, Dongfeng; Zeng, Xiaofeng; Fan, Bifa; Zhai, Suodi

A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review

一例患有类似Dravet综合征的女孩的新生PUM1变异:病例报告及文献综述

Ye, Yuanzhen; Hu, Zhanqi; Mai, Jiahui; Chen, Li; Cao, Dezhi; Liao, Jianxiang; Duan, Jing

Non-convulsive Status Epilepticus in SEMA6B-Related Progressive Myoclonic Epilepsy: A Case Report With Literature Review.

SEMA6B相关进行性肌阵挛性癫痫中的非惊厥性癫痫持续状态:病例报告及文献综述

Duan Jing, Chen Yan, Hu Zhanqi, Ye Yuanzhen, Zhang Tian, Li Cong, Zeng Qi, Zhao Xia, Mai Jiahui, Sun Yang, Liu Chao, Zheng Wenxin, Xiao Yuhan, Liao Jianxiang, Chen Li