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

Ertugliflozin improves animal behaviours associated with oxidative stress and inflammation in a BTBR T + Itpr3tf/J mouse model of autism.

Ertugliflozin 可改善 BTBR T + Itpr3tf/J 自闭症小鼠模型中与氧化应激和炎症相关的动物行为。

Wang Xiaona, Zhao Zhengqin, Sun Limin, Gao Chao, Wang Li, Mei Daoqi, Hao Chanjuan, Zhao Shuai, Yan Xingxue, Liu Jing, Liu Lei, Guo Bin, Zhang Yaodong

Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening

对7501名新生儿进行靶向基因测序和听力随访,揭示了一种改进的新生儿听力筛查策略

Hao, Chanjuan; Hu, Xuyun; Guo, Ruolan; Qi, Zhan; Jin, Feng; Zhang, Xiaofen; Xie, Limin; Liu, Haihong; Liu, Yuanhu; Ni, Xin; Li, Wei

Systematic assessment of structural variant annotation tools for genomic interpretation

对基因组解读的结构变异注释工具进行系统评估

Liu, Xuanshi; Gu, Lei; Hao, Chanjuan; Xu, Wenjian; Leng, Fei; Zhang, Peng; Li, Wei

Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns

针对中国新生儿的基因筛查,旨在识别携带者状态和早发疾病风险

Hao, Chanjuan; Hu, Xuyun; Guo, Ruolan; Qi, Zhan; Xie, Limin; Jin, Feng; Li, Huimin; Ni, Xin; Li, Wei

DVsc: An Automated Framework for Efficiently Detecting Viral Infection from Single-cell Transcriptomics Data

DVsc:一种用于从单细胞转录组学数据中高效检测病毒感染的自动化框架

Leng, Fei; Mei, Song; Zhou, Xiaolin; Liu, Xuanshi; Yuan, Yefeng; Xu, Wenjian; Hao, Chongyi; Guo, Ruolan; Hao, Chanjuan; Li, Wei; Zhang, Peng

Cardiomyopathy in children: a single-centre, retrospective study of genetic and clinical characteristics

儿童心肌病:一项单中心回顾性遗传和临床特征研究

Sun, Qiqing; Guo, Jun; Zhang, Yaodong; Zheng, Ruili; He, Kun; Chen, Yuanying; Hao, Chanjuan; Xie, Zhenhua; Wang, Fangjie

An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review

一名患有先天性小颌畸形和上呼吸道梗阻的婴儿被诊断为由一种新的LMNA基因突变引起的Hutchinson-Gilford早衰综合征:病例报告及文献综述

Xu, Duojiao; Guo, Yujiao; Qi, Zhan; Hao, Chanjuan; Yu, Guoxia

Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine

鉴定出一种新的纯合无义SLC10A7变异,该变异导致身材矮小、牙釉质发育不全和骨骼发育不良伴脊柱侧弯,并探讨了脊柱的手术治疗方法。

Zhang, Wenyan; Yao, Ziming; Guo, Ruolan; Cao, Jun; Li, Wei; Hao, Chanjuan; Zhang, Xuejun

Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests

通过一系列基因组检测,对354名携带罕见突变的中国自闭症谱系障碍(ASD)患儿进行基因诊断。

Zhang, Yue; Li, Ying; Guo, Ruolan; Xu, Wenjian; Liu, Xuanshi; Zhao, Chunlin; Guo, Qi; Xu, Wenshan; Ni, Xin; Hao, Chanjuan; Cui, Yonghua; Li, Wei

Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test

自闭症谱系障碍的行为缺陷及其与不同基因簇的关联:一项基于全基因组传递不平衡检验的研究

Guo, Qi; Xia, Lu; Guo, Ruolan; Xu, Wenjian; Zhang, Yue; Zhao, Chunlin; Zhang, Peng; Bai, Ting; Ni, Xin; Hao, Chanjuan; Xia, Kun; Li, Wei