Development and validation of a haplotype‐free technique for non‐invasive prenatal diagnosis of spinal muscular atrophy

por Wei, Xianda, Lv, Weigang, Tan, Hu, Liang, Desheng, Wu, Lingqian
Publicado 2019

A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome

por Tan, Hu, Yang, Pu, Li, Haoxian, Pan, Qian, Liang, Desheng, Wu, Lingqian
Publicado 2015

Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases

por Yang, Chenxi, Pan, Jianyan, Linpeng, Siyuan, Li, Zhuo, Tan, Hu, Wu, Lingqian
Publicado 2019

PLXND1-mediated calcium dyshomeostasis impairs endocardial endothelial autophagy in atrial fibrillation

por Sun, Mengjia, Chen, Zhen, Song, Yuanbin, Zhang, Bo, Yang, Jie, Tan, Hu
Publicado 2022

Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report

por Huang, Chengzi, Long, Xigui, Peng, Can, Lin, Pengsiyuan, Tan, Hu, Lv, Weigang, Wu, Lingqian
Publicado 2019

A novel GJB1 mutation associated with X‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree

por Liu, Yingdi, Xue, Jinjie, Li, Zhuo, Linpeng, Siyuan, Tan, Hu, Teng, Yanling, Liang, Desheng, Wu, Lingqian
Publicado 2020

Development and Validation of a Liquid-Liquid Phase Separation-Related Gene Signature as Prognostic Biomarker for Low-Grade Gliomas

por Ning, Lidong, Zhao, Guanyan, Xie, Changji, Lan, Huan, Chen, Jiefei, Tan, Hu, Wei, ChengCong, Zhou, Zhiyu
Publicado 2022

Pitavastatin activates mitophagy to protect EPC proliferation through a calcium-dependent CAMK1-PINK1 pathway in atherosclerotic mice

por Yang, Jie, Sun, Mengjia, Cheng, Ran, Tan, Hu, Liu, Chuan, Chen, Renzheng, Zhang, Jihang, Yang, Yuanqi, Gao, Xubin, Huang, Lan
Publicado 2022

Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome

por Tan, Hu, Mei, Libin, Huang, Yanru, Yang, Pu, Li, Haoxian, Peng, Ying, Chen, Chen, Wei, Xianda, Pan, Qian, Liang, Desheng, Wu, Lingqian
Publicado 2016

Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis

por Long, Xigui, Huang, Yanru, Tan, Hu, Li, Zhuo, Zhang, Rui, Linpeng, Siyuan, Lv, Weigang, Cao, Yingxi, Li, Haoxian, Liang, Desheng, Wu, Lingqian
Publicado 2018

Association Between Single Nucleotide Polymorphisms in PPARA and EPAS1 Genes and High-Altitude Appetite Loss in Chinese Young Men

por Pan, Wenxu, Liu, Chuan, Zhang, Jihang, Gao, Xubin, Yu, Shiyong, Tan, Hu, Yu, Jie, Qian, Dehui, Li, Jiabei, Bian, Shizhu, Yang, Jie, Zhang, Chen, Huang, Lan, Jin, Jun
Publicado 2019

Assessment of right atrial dyssynchrony by 2D speckle-tracking in healthy young men following high altitude exposure at 4100 m

por He, Chunyan, Xiang, Hedong, Liu, Chuan, Yu, Shiyong, Yang, Jie, Ding, Xiaohan, Bian, Shizhu, Zhang, Jihang, Tan, Hu, Jin, Jun, Hu, Mingdong, Zhang, Chen, Rao, Rongsheng, Huang, Lan
Publicado 2021

Cardiovascular Indicators of Systemic Circulation and Acute Mountain Sickness: An Observational Cohort Study

por Chen, Renzheng, Sun, Mengjia, Yang, Jie, Liu, Chuan, Zhang, Jihang, Ke, Jingbin, Deng, Yuhan, He, Chunyan, Yang, Yuanqi, Cheng, Ran, Yuan, Fangzhengyuan, Tan, Hu, Gao, Xubin, Huang, Lan
Publicado 2021

Sex Differences in the Incidence and Risk Factors of Myocardial Injury in COVID-19 Patients: A Retrospective Cohort Study

por Cheng, Ran, Liu, Chuan, Yang, Jie, Yang, Yuanqi, Chen, Renzheng, Ding, Xiaohan, Gao, Xubin, Ke, Jingbin, Yuan, Fangzhengyuan, He, Chunyan, Shen, Yang, Zhang, Limin, Li, Ping, Tan, Hu, Huang, Lan
Publicado 2021

Sex-Dependent Association Between Early Morning Ambulatory Blood Pressure Variations and Acute Mountain Sickness

por Chen, Renzheng, Yang, Jie, Liu, Chuan, Sun, Mengjia, Ke, Jingbin, Yang, Yuanqi, Shen, Yang, Yuan, Fangzhengyuan, He, Chunyan, Cheng, Ran, Lv, Hailin, Tan, Hu, Gao, Xubin, Zhang, Jihang, Huang, Lan
Publicado 2021

Atrial performance in healthy subjects following high altitude exposure at 4100 m: 2D speckle-tracking strain analysis

por He, Chunyan, Liu, Chuan, Yu, Shiyong, Yang, Jie, Ding, Xiaohan, Bian, Shizhu, Zhang, Jihang, Yu, Jie, Tan, Hu, Jin, Jun, Hu, Mingdong, Wu, Guoming, Zhang, Chen, Rao, Rongsheng, Huang, Lan
Publicado 2021

Blood Pressure Load: An Effective Indicator of Systemic Circulation Status in Individuals With Acute Altitude Sickness

por Chen, Renzheng, Ye, Xiaowei, Sun, Mengjia, Yang, Jie, Zhang, Jihang, Gao, Xubin, Liu, Chuan, Ke, Jingbin, He, Chunyan, Yuan, Fangzhengyuan, Lv, Hailin, Yang, Yuanqi, Cheng, Ran, Tan, Hu, Huang, Lan
Publicado 2022

The Association Between Notching of the Right Ventricular Outflow Tract Flow Velocity Doppler Envelope and Impaired Right Ventricular Function After Acute High-Altitude Exposure

por Yuan, Fangzhengyuan, Liu, Chuan, Yu, Shiyong, Bian, Shizhu, Yang, Jie, Ding, Xiaohan, Zhang, Jihang, Tan, Hu, Ke, Jingbin, Yang, Yuanqi, He, Chunyan, Zhang, Chen, Rao, Rongsheng, Liu, Zhaojun, Yang, Jun, Huang, Lan
Publicado 2021

Blood pressure and left ventricular function changes in different ambulatory blood pressure patterns at high altitude

por Chen, Renzheng, Yang, Jie, Liu, Chuan, Ke, Jingbin, Gao, Xubin, Yang, Yuanqi, Shen, Yang, Yuan, Fangzhengyuan, He, Chunyan, Cheng, Ran, Lv, Hailin, Zhang, Chen, Gu, Wenzhu, Tan, Hu, Zhang, Jihang, Huang, Lan
Publicado 2021

Prediction of High-Altitude Cardiorespiratory Fitness Impairment Using a Combination of Physiological Parameters During Exercise at Sea Level and Genetic Information in an Integrat...

por Yang, Jie, Tan, Hu, Sun, Mengjia, Chen, Renzheng, Zhang, Jihang, Liu, Chuan, Yang, Yuanqi, Ding, Xiaohan, Yu, Shiyong, Gu, Wenzhu, Ke, Jingbin, Shen, Yang, Zhang, Chen, Gao, Xubin, Li, Chun, Huang, Lan
Publicado 2022