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

Establishment of a Risk Prediction Model for Metabolic Dysfunction-Associated Steatotic Liver Disease in People Living with HIV in China

在中国建立艾滋病毒感染者代谢功能障碍相关脂肪肝风险预测模型

Lin, Yunting; Kong, Dongji; Cao, Yi; Xie, Xiaohong; Jin, Yong

Clinical and molecular characteristics of a series of Chinese children with pseudohypoaldosteronism: a case series

中国儿童假性醛固酮减少症的临床和分子特征:病例系列研究

Wu, Ziying; Li, Junzan; Sheng, Huiying; Li, Xiuzhen; Huang, Zien; Liang, Cuili; Mei, Huifen; Lin, Yunting; Li, Taolin; Zhang, Wen; Xu, Aijing

Evaluation of efficacy and safety of AAV8-ΔC4ATP7B gene therapy in a mutant mouse model of Wilson's disease.

在威尔逊病突变小鼠模型中评估 AAV8-ΔC4ATP7B 基因疗法的疗效和安全性

Zeng Chunhua, Lin Yunting, Lu Xinshuo, Chen Shehong, Xia Yan, Zhang Kangdi, Shao Yongxian, Guan Zhihong, Du Rong, Liu Zongcai, Zhao Mingqi, Jiang Xiaoling, Cai Yanna, Li Taolin, Su Xueying, Chen Yaoyong, Dong Xiaoyan, Zhang Wen, Liu Li, Zhou Wenhao

Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China

中国南方51例特发性低促性腺激素性性腺功能减退症男性患者的临床特征、遗传谱及治疗效果

Sheng, Huiying; Liang, Cuili; Cheng, Jing; Liu, Huazhen; Mao, Xiaojian; Li, Xiuzhen; Li, Duan; Lu, Zhikun; Cai, Yanna; Su, Xueying; Zhang, Liyu; Fu, Wen; Hu, Jinhua; Jia, Wei; Liu, Guochang; Zhang, Wen; Liu, Li; Lin, Yunting

Identification of a Chinese patient with MTSS2-causing intellectual disability by WES reanalysis: a case report

通过全外显子组测序(WES)重新分析鉴定出一例由MTSS2基因突变引起的智力障碍的中国患者:病例报告

Li, Duan; Zhang, Wen; Mei, Huifen; Chen, Xiaodan; Lu, Zhikun; Wu, Pengfei; Liu, Li; Lin, Yunting

Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life

异基因造血干细胞移植治疗黏多糖贮积症患者:单中心经验及生活质量评估

Zhang, Wen; Huang, Yonglan; Su, Xueying; Zhao, Xiaoyuan; Sheng, Huiying; Liang, Cuili; Jiang, Minyan; Zeng, Chunhua; Cai, Yanna; Lin, Yunting; Shao, Yongxian; Liu, Sha; Jiang, Hua; Liu, Li

Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review

中国尿黑酸症患者的临床和分子特征:一名儿科患者的4年随访及文献综述

Qiu, Xiaomei; Liu, Yuqing; Shao, Yongxian; Mao, Xiaojian; Zhang, Jingqi; Chen, Xiaodan; Yin, Xi; Sheng, Huiying; Li, Xiuzhen; Lin, Yunting

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study

中国南方60例甲基丙二酸尿症患者的临床和基因分析:一项单中心回顾性研究

Su, Ling; Sheng, Huiying; Li, Xiuzhen; Cai, Yanna; Mei, Huifen; Cheng, Jing; Li, Duan; Lu, Zhikun; Lin, Yunting; Chen, Xiaodan; Peng, Minzhi; Huang, Yonglan; Zhang, Wen; Liu, Li

Natural history and outcome of nonketotic hyperglycinemia in China

中国非酮症性高甘氨酸血症的自然病程和预后

Zhou, Zhizi; Cai, Yanna; Li, Xiuzhen; Liu, Zongcai; Peng, Minzhi; Lin, Yunting; Mao, Xiaojian; Zeng, Chunhua; Liu, Li; Zhang, Wen

Reproductive hormones and sex differences in relation to brachial-ankle pulse wave velocity in obese subjects: a retrospective case-control study

肥胖人群中生殖激素和性别差异与臂踝脉搏波速度的关系:一项回顾性病例对照研究

Lin, Yunting; Song, Endi; Jin, Han; Jin, Yong