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

From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencing

从阴影到清晰:结合长读长测序和RNA测序技术,为未确诊的肌营养不良症患者提供全面的变异检测新范式

Zhao, Lei; Pan, Shirang; Hu, Chaoping; Shi, Yiyun; Li, Xihua

Preparation and characterization of liquefied eggplant branch bio-based controlled-release fertilizer

制备和表征液态茄枝生物基控释肥料

Guo, Yanle; Zhuang, Fengyuan; Cui, Qunxiang; Zhang, Shugang; Hao, Zhenping; Shi, Yiyun; Lu, Hao; Shi, Xiaoqing

Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.

中国胶原蛋白VI相关疾病的临床、病理和遗传谱——一项回顾性观察多中心研究

Hu Chaoping, Shi Yiyun, Zhao Lei, Zhu Wenhua, Jiao Kexin, Yu Lifei, Li Xihua, Wang Yi

Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021

基于2011年至2021年数据库,对2097例肌营养不良症患者进行综合分析

Zhao, Lei; Shi, Yiyun; Hu, Chaoping; Zhou, Shuizhen; Li, Hui; Zhang, Lifeng; Qian, Chuang; Zhou, Yiyao; Wang, Yi; Li, Xihua

Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China

脊髓性肌萎缩症患儿的全面特征和自然病程:一项来自中国的大型回顾性研究

Hu, Chaoping; Li, Xihua; Shi, Yiyun; Zhu, Xiaomei; Zhao, Lei; Li, Wenhui; Zhou, Shuizhen; Wang, Yi

When the Good Syndrome Goes Bad: A Systematic Literature Review

当“好综合症”变坏时:系统性文献综述

Shi, Yiyun; Wang, Chen

Validation of pneumonia prognostic scores in a statewide cohort of hospitalised patients with COVID-19

在全州住院新冠肺炎患者队列中验证肺炎预后评分

Shi, Yiyun; Pandita, Aakriti; Hardesty, Anna; McCarthy, Meghan; Aridi, Jad; Weiss, Zoe F; Beckwith, Curt G; Farmakiotis, Dimitrios

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients

先天性肌强直:中国患者的临床特征和CLCN1基因突变谱

Hu, Chaoping; Shi, Yiyun; Zhao, Lei; Zhou, Shuizhen; Li, Xihua

Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China

中国儿童线粒体肌病临床特征及预后

Hu, Chaoping; Li, Xihua; Zhao, Lei; Shi, Yiyun; Zhou, Shuizhen; Wang, Yi

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants

一例由新型SLC25A1变异引起的先天性重症肌无力综合征与D-2-和L-2-羟基戊二酸尿症之间的中间表型病例报告

Li, Wenhui; Zhang, Min; Zhang, Linmei; Shi, Yiyun; Zhao, Lei; Wu, Bingbing; Li, Xihua; Zhou, Shuizhen