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

ARF1-Related Diseases in China: The Initial Study of Phenotype and Molecular Profile.

中国ARF1相关疾病:表型和分子特征的初步研究

Lian Ruofei, Wu Gongao, Jin Liang, Zhao Shichao, Gan Ling, Wang Lijun, Li Mengchun, Liang Ruirui, Jia Tianming, Dong Yan

Novel homozygous missense variants in MED27 associated with neurodevelopmental disorder: Clinical and pathogenetic research

MED27基因中与神经发育障碍相关的新型纯合错义变异:临床和发病机制研究

Wu, Gongao; Lian, Ruofei; Li, Mengchun; Jin, Liang; Jia, Tianming; Wang, Lijun; Gan, Ling; Zhao, Shichao; Liang, Ruirui; Dong, Yan

Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China

中国兰姆-沙弗尔综合征的临床病例系列及发病机制

Lian, Ruofei; Wu, Gongao; Xu, Falin; Zhao, Shichao; Li, Mengchun; Wang, Haiyan; Jia, Tianming; Dong, Yan

Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations

对由 RARS2 变异引起的 6 型脑桥小脑发育不全患儿进行临床和遗传分析

Zhao, Shichao; Lian, Ruofei; Jin, Liang; Li, Mengchun; Jia, Tianming; Xu, Falin; Du, Kaixian; Wang, Lijun; Guo, Qiliang; Dong, Yan

Crucial involvement of fast waves and Delta band in the brain network attributes of infantile epileptic spasms syndrome

快速波和δ波在婴儿癫痫痉挛综合征脑网络特征中的关键作用

Dong, Yan; Jin, Liang; Li, Mengchun; Lian, Ruofei; Wu, Gongao; Xu, Ruijuan; Zhang, Xiaoli; Du, Kaixian; Jia, Tianming; Wang, Haiyan; Zhao, Shichao