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

The difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysis

ETFDH基因双等位基因和单杂合变异携带者晚发性多酰基辅酶A脱氢酶缺乏症变异类型的差异:系统评价和荟萃分析

Zhang, Huiqiu; Ma, Jing; Su, Menghan; Zhao, Junsen; Duan, Weisong; Wang, Juan; Liu, Dan; Guo, Junhong; Chang, Xueli; Zhang, Wei; Zhao, Rongjuan

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.

分析新型 GNE 突变的致病性以及 GNE 肌病在中国人群中的临床、病理和遗传特征

Xing Yingming, Zhao Lingqian, Zhao Renlong, Liu Qiyun, Wang Juan, Wang Le, Zhang Wei, Guo Junhong, Zhao Rongjuan, Chang Xueli

The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis

晚发性多酰基辅酶A脱氢酶缺乏症的男女比例:系统评价和荟萃分析

Ma, Jing; Zhang, Huiqiu; Liang, Feng; Li, Guanxi; Pang, Xiaomin; Zhao, Rongjuan; Wang, Juan; Chang, Xueli; Guo, Junhong; Zhang, Wei

Relative frequencies and clinical features of Guillain-Barré Syndrome before and during the COVID-19 pandemic in North China

华北地区新冠疫情前后格林-巴利综合征的相对频率和临床特征

Li, Yaqian; Zhao, Rongjuan; Li, Ling; Xue, Huiru; Meng, Huaxing; Li, Guanxi; Liang, Feng; Zhang, Huiqiu; Ma, Jing; Pang, Xiaomin; Wang, Juan; Chang, Xueli; Guo, Junhong; Zhang, Wei

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

自闭症/发育迟缓风险基因的遗传突变和多个新发突变提示存在多因素模型

Guo, Hui; Wang, Tianyun; Wu, Huidan; Long, Min; Coe, Bradley P; Li, Honghui; Xun, Guanglei; Ou, Jianjun; Chen, Biyuan; Duan, Guiqin; Bai, Ting; Zhao, Ningxia; Shen, Yidong; Li, Yun; Wang, Yazhe; Zhang, Yu; Baker, Carl; Liu, Yanling; Pang, Nan; Huang, Lian; Han, Lin; Jia, Xiangbin; Liu, Cenying; Ni, Hailun; Yang, Xinyi; Xia, Lu; Chen, Jingjing; Shen, Lu; Li, Ying; Zhao, Rongjuan; Zhao, Wenjing; Peng, Jing; Pan, Qian; Long, Zhigao; Su, Wei; Tan, Jieqiong; Du, Xiaogang; Ke, Xiaoyan; Yao, Meiling; Hu, Zhengmao; Zou, Xiaobing; Zhao, Jingping; Bernier, Raphael A; Eichler, Evan E; Xia, Kun