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

Phenotypic, Genotypic Characteristics, and Treatment Strategies of Pediatric Tyrosine Hydroxylase Deficiency: A Single-Center Retrospective Analysis of 51 Cases

儿童酪氨酸羟化酶缺乏症的表型、基因型特征及治疗策略:一项单中心回顾性分析(51例病例)

Ban, Tingting; Cheng, Ye; Zhang, Yan; Lin, Caimei; Chai, Yiming; Li, Wenhui; Zhang, Linmei; Xing, Qinghe; Wang, Yi; Zhou, Shuizhen

Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral Palsy

血清蛋白质组学揭示脑瘫的诊断生物标志物和分子通路

Xu, Yiran; Ma, Chi; Sun, Yanyan; Zhu, Jiajun; He, Shiman; Gao, Hui; Tan, Subei; Zhang, Lingling; Feng, Jinwen; Wang, Yangong; Tian, Sha; Xing, Qinghe; Zhang, Jiamei; Wu, Yanan; Zhang, Xiaoli; Zhang, Lirong; Zhu, Dengna; Kruer, Michael; Wang, Xiaoyang; Gecz, Jozef; Zhu, Changlian; Ding, Chen

Insights into the genetic landscape of cerebral palsy

对脑瘫遗传图谱的深入了解

Wang, Yangong; Zhu, Changlian; Xing, Qinghe

Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study

在中国患有全面发育迟缓/智力障碍的儿童中检测到的具有临床意义的变异:一项全外显子组测序研究

Qiao, Yimeng; Lv, Nan; Li, Tongchuan; Cheng, Ye; Li, Yunqian; Dong, Jiqiang; Han, Meimei; Gu, Yang; Shang, Qing; Xing, Qinghe

Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement.

RBM42 的双等位基因变异会导致多系统疾病,累及神经系统、面部、心脏和肌肉骨骼系统

Chen Yiyao, Yang Bingxin, Zhang Xiaoyu Merlin, Chen Songchang, Wang Minhui, Hu Liya, Pan Nina, Li Shuyuan, Shi Weihui, Yang Zhenhua, Wang Li, Tan Yajing, Wang Jian, Wang Yanlin, Xing Qinghe, Ma Zhonghua, Li Jinsong, Huang He-Feng, Zhang Jinglan, Xu Chenming

The association between HLA-B variants and amoxicillin-induced severe cutaneous adverse reactions in Chinese han population

HLA-B变异与中国汉族人群阿莫西林引起的严重皮肤不良反应之间的关联

Wang, Ting; Yang, Jin; Yang, Fanping; Cheng, Ye; Huang, Zichong; Li, Bei; Yang, Linlin; Xing, Qinghe; Luo, Xiaoqun

Clinical variables and genetic variants associated with perioperative anaphylaxis in Chinese Han population: A pilot study

中国汉族人群围手术期过敏反应的临床变量和遗传变异:一项初步研究

Qi, Zheng; Cheng, Ye; Su, Yu; Qiao, Yimeng; Zhang, Jin; Yang, Jian-Jun; Xing, Qinghe

Targeting the metabolic profile of amino acids to identify the key metabolic characteristics in cerebral palsy

通过分析氨基酸代谢谱来确定脑瘫的关键代谢特征

Wang, Dan; Song, Juan; Cheng, Ye; Xu, Yiran; Song, Lili; Qiao, Yimeng; Li, Bingbing; Xia, Lei; Li, Ming; Zhang, Jin; Su, Yu; Wang, Ting; Ding, Jian; Wang, Xiaoyang; Wang, Sujuan; Zhu, Changlian; Xing, Qinghe

Long non-coding RNA ESCCAL-1/miR-590/LRP6 signaling pathway participates in the progression of esophageal squamous cell carcinoma

长链非编码RNA ESCCAL-1/miR-590/LRP6信号通路参与食管鳞状细胞癌的进展

Guan, Hongya; Lv, Pengju; Han, Pengli; Zhou, Lijuan; Liu, Jia; Wu, Wei; Yan, Ming; Xing, Qinghe; Cao, Wei

Cryo-EM structure of Mycobacterium tuberculosis 50S ribosomal subunit bound with clarithromycin reveals dynamic and specific interactions with macrolides.

结核分枝杆菌 50S 核糖体亚基与克拉霉素结合的冷冻电镜结构揭示了其与大环内酯类抗生素的动态和特异性相互作用

Zhang Wen, Li ZhiFei, Sun Yufan, Cui Peng, Liang Jianhua, Xing Qinghe, Wu Jing, Xu Yanhui, Zhang Wenhong, Zhang Ying, He Lin, Gao Ning