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

From iPSCs to myotubes: Identifying potential biomarkers for human FSHD by single-cell transcriptomics

从诱导多能干细胞到肌管:通过单细胞转录组学鉴定人类 FSHD 的潜在生物标志物

Liu, Wenwen; Chen, Hao; Jiao, Jiao; Zhang, Qinxin; Liang, Dong; Huo, Haiqin; Ji, Xiuqing; Huang, Mingtao; Hou, Xiaojing; Cao, Yan; Wu, Sihui; Wang, Yan; Zhang, Jun; Xu, Zhengfeng; Hu, Ping

Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.

长读长纳米孔测序确定了中国一名患有综合征性发育迟缓的女孩的 MEIS2 基因中从头发生的臂间倒位的精确断点,该倒位破坏了该基因

Tan Jianxin, Huang Mingtao, Ji Xiuqing, Liu An, Qiao Fengchang, Zhang Cuiping, Meng Lulu, Wang Yan, Xu Zhengfeng, Hu Ping

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

光学基因组图谱技术用于产前诊断中染色体畸变的检测

Zhang, Qinxin; Wang, Yan; Xu, Yiyun; Zhou, Ran; Huang, Mingtao; Qiao, Fengchang; Meng, Lulu; Liu, An; Zhou, Jing; Li, Li; Ji, Xiuqing; Xu, Zhengfeng; Hu, Ping

11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation

一名患病女孩存在11q13.3q13.4缺失和9q21.13q21.33重复,该病由家族性四向平衡染色体易位引起。

Zhang, Qinxin; Wang, Yan; Zhou, Jing; Zhou, Ran; Liu, An; Meng, Lulu; Ji, Xiuqing; Hu, Ping; Xu, Zhengfeng

Torpor-like Hypothermia Induced by A1 Adenosine Receptor Agonist: A Novel Approach to Protect against Neuroinflammation

A1腺苷受体激动剂诱发的麻木样低温:一种预防神经炎症的新方法

Kang Fu, Chunlei Hui, Xinyuan Wang, Tingting Ji, Xiuqing Li, Rui Sun, Chunlei Xing, Xi Fan, Yuanqing Gao, Li Su

Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis

基因分析指导下的非综合征性听力障碍患者的遗传咨询

Ma, Dingyuan; Zhang, Jingjing; Luo, Chunyu; Lin, Ying; Ji, Xiuqing; Hu, Ping; Xu, Zhengfeng

Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing

利用低覆盖率二代测序技术对18号环状染色体进行分子表征

Ji, Xiuqing; Liang, Dong; Sun, Ruihong; Liu, Cuiyun; Ma, Dingyuan; Wang, Yan; Hu, Ping; Xu, Zhengfeng