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

Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene

COLQ基因三种突变导致先天性重症肌无力的机制

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2021.679342
Luo, Xiaona; Wang, Chunmei; Lin, Longlong; Yuan, Fang; Wang, Simei; Wang, Yilin; Wang, Anqi; Wang, Chao; Wu, Shengnan; Lan, Xiaoping; Xu, Quanmei; Yin, Rongrong; Cheng, Hongyi; Zhang, Yuanfeng; Xi, Jiaming; Zhang, Jie; Sun, Xiaomin; Yan, Jingbin; Zeng, Fanyi; Chen, Yucai
COL
重症肌无力
免疫/内分泌
发表日期：2021
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MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism.

中国女孩MED12相关疾病：临床特征和潜在机制

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2020.00129
Wang Chao, Lin Longlong, Xue Yan, Wang Yilin, Liu Zhao, Ou Zicheng, Wu Shengnan, Lan Xiaoping, Zhang Yuanfeng, Yuan Fang, Luo Xiaona, Wang Chunmei, Xi Jiaming, Sun Xiaomin, Chen Yucai
其它
发表日期：2020
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Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH

汉族患者多巴反应性肌张力障碍：GTP环化酶1 (GCH1)基因中一种新的杂合突变和TH基因中的三种已知突变

期刊:Medical Science Monitor
影响因子:2.1
doi:10.12659/msm.907288
Yang, Kunfang; Yin, Rongrong; Lan, Xiaoping; Zhang, Yuanfeng; Cheng, Hongyi; Wang, Simei; Wang, Chunmei; Lu, Yanfen; Xi, Jiaming; Lu, Qin; Huang, Jianjun; Chen, Yucai
发表日期：2018
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CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report

先天性重症肌无力综合征中CHRNE复合杂合突变：病例报告

期刊:Medicine
影响因子:1.4
doi:10.1097/MD.0000000000010347
Yang, Kunfang; Cheng, Hongyi; Yuan, Fang; Meng, Linyi; Yin, Rongrong; Zhang, Yuanfeng; Wang, Simei; Wang, Chunmei; Lu, Yanfen; Xi, Jiaming; Lu, Qin; Chen, Yucai
免疫/内分泌
重症肌无力
发表日期：2018
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