Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death by Yu-Xing Liu, Yu-Xing Liu, Yu-Xing Liu, Rong Yu, Yue Sheng, Yue Sheng, Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan, Yao Deng

Get full text

Doubly bi-allelic variants of MTHFR and MTHFD1 in a Chinese patient with hyperhomocysteinemia and failure of folic acid therapy by Yu-Xing Liu, Yu-Xing Liu, Man-Hua Ding, Yue Sheng, Meng-Fei Sun, Lv Liu, Yang Zhang

Get full text

Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis by Yu-Xing Liu, Yu-Xing Liu, Yu-Xing Liu, Yu-Xing Liu, Ai-Qian Zhang, Fang-Mei Luo, Fang-Mei Luo, Yue Sheng, Yue Sheng, Chen-Yu Wang, Chen-Yu Wang, Yi Dong, Yi Dong, Liangliang Fan, Liangliang Fan, Liangliang Fan, Liangliang Fan, Lv Liu

Get full text

Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient by Shan-Yu Gao, Shan-Yu Gao, Shan-Yu Gao, Yu-Xing Liu, Yu-Xing Liu, Yi Dong, Liang-Liang Fan, Qi Ding, Lv Liu

Get full text

The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations by Yi Tang, Yu-Xing Liu, Yue Sheng, Liang-Liang Fan, Ai-Qian Zhang, Zhao-Fen Zheng

Get full text

Correction to: Increased RTN3 phenocopies nonalcoholic fatty liver disease by inhibiting the AMPK‐IDH2 pathway by Hao Huang, Shuai Guo, Ya‐Qin Chen, Yu‐Xing Liu, Jie‐Yuan Jin, Yun Liang, Liang‐Liang Fan, Rong Xiang

Get full text

Increased RTN3 phenocopies nonalcoholic fatty liver disease by inhibiting the AMPK–IDH2 pathway by Hao Huang, Shuai Guo, Ya‐Qin Chen, Yu‐Xing Liu, Jie‐Yuan Jin, Yun Liang, Liang‐Liang Fan, Rong Xiang

Get full text

Case report: A novel mutation of RecQ-like helicase 5 in a Chinese family with early myocardial infarction, coronary artery disease, and stroke hemiplegia by Yi Tang, Qian Wang, Wei-Kai Zhang, Yu-Xing Liu, Zhao-Fen Zheng, Liang-Liang Fan, Lv Liu, Jin He

Get full text

A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly by Tao Wang, Yu-Xing Liu, Fang-Mei Luo, Yi Dong, Ya-Li Li, Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan

Get full text

Postoperative clinical outcomes of patients with thymic epithelial tumors after over-3-year follow-up at a single-center by Peng Jiao, Wen-Xin Tian, Fan-Juan Wu, Yu-Xing Liu, Jiang-Yu Wu, Yao-Guang Sun, Han-Bo Yu, Chuan Huang, Qing-Jun Wu, Chao Ma, Dong-Hang Li, Hong-Feng Tong, Jun Li

Get full text