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

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients

20例中国患者先天性糖基化障碍的临床和遗传特征分析

Zhao, Peiwei; Tan, Li; Meng, Qingjie; Zhang, Lei; Huang, Yufeng; Zhang, Xiankai; Hu, Yanqiu; Zhou, Shiqiong; He, Xuelian

Molecular characterization and biomarker identification in paediatric B-cell acute lymphoblastic leukaemia

儿童B细胞急性淋巴细胞白血病的分子特征和生物标志物鉴定

Du, Yu; Zhang, Xiankai; Sun, Ming; Yang, Li; Long, Fei; Qi, Shanshan; Luo, Linlin; Lv, Xiaoyan; Wang, Chenxuan; Wu, Xiaoying; Zhu, Liuqing; Ou, Qiuxiang; Xiong, Hao

A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever.

中国一名反复发热患者体内发现 CARD11 基因中一种新的致病性显性负性变异

Zhao Peiwei, Meng Qingjie, Wu Yali, Zhang Lei, Zhang Xiankai, Tan Li, Ding Yan, Lu XiaoXia, 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

RPS15 interacted with IGF2BP1 to promote esophageal squamous cell carcinoma development via recognizing m6A modification

RPS15 通过识别 m6A 修饰与 IGF2BP1 相互作用促进食管鳞状细胞癌发展

Yahui Zhao #, Yang Li #, Rui Zhu, Riyue Feng, Heyang Cui, Xiao Yu, Furong Huang, Ruixiang Zhang, Xiankai Chen, Lei Li, Yinghui Chen, Yuhao Liu, Jinhua Wang, Guanhua Du, Zhihua Liu

A novel CARD11 germline mutation in a Chinese patient of B cell expansion with NF-κB and T cell anergy (BENTA) and literature review

一例中国 B 细胞扩增伴 NF-κB 和 T 细胞无能 (BENTA) 患者的 CARD11 种系突变及文献综述

Peiwei Zhao, Yanqiu Hu, Dongming Sun, Qingjie Meng, Lei Zhang, Xiankai Zhang, Li Tan, Yong Zhang, Yan Ding, Xuelian He

Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy

鉴定出首例由17号染色体混合单亲二体性导致ALOX12B基因纯合缺失引起的先天性鱼鳞病病例

Zhang, Lei; Hu, Yanqiu; Lu, Jingjing; Zhao, Peiwei; Zhang, Xiankai; Tan, Li; Li, Jun; Xiao, Cuiping; Zeng, Linkong; He, Xuelian

Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy

更正:鉴定出首例由17号染色体混合单亲二体导致的ALOX12B基因纯合缺失引起的先天性鱼鳞病病例

Zhang, Lei; Hu, Yanqiu; Lu, Jingjing; Zhao, Peiwei; Zhang, Xiankai; Tan, Li; Li, Jun; Xiao, Cuiping; Zeng, Linkong; He, Xuelian

Obtaining Specific Sequence Tags for Yersinia pestis and Visually Detecting Them Using the CRISPR-Cas12a System

利用 CRISPR-Cas12a 系统获取鼠疫耶尔森菌的特定序列标签并进行可视化检测

Gang Chen,Yufei Lyu,Dongshu Wang,Li Zhu,Shiyang Cao,Chao Pan,Erling Feng,Weicai Zhang,Xiankai Liu,Yujun Cui,Hengliang Wang