Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

by Lulu Kang, Yi Liu, Ying Jin, Mengqiu Li, Jinqing Song, Yi Zhang, Yao Zhang, Yanling Yang
Published 2020-01-01

Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population

by Wenying Wang, Yi Liu, Lulu Kang, Ruxuan He, Jinqing Song, Yanhan Li, Jun Li, Yanling Yang
Published 2019-08-01

Reduced 24-h Sodium Excretion Is Associated With a Disturbed Plasma Acylcarnitine Profile in Vasovagal Syncope Children: A Pilot Study

by Jinqing Song, Chunyan Tao, Guozhen Chen, Guozhen Chen, Selena Chen, Wenrui Xu, Junbao Du, Yanling Yang, Yaqian Huang
Published 2020-03-01

Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

by Ruxuan He, Ruo Mo, Ming Shen, Lulu Kang, Jinqing Song, Yi Liu, Zhehui Chen, Hongwu Zhang, Hongxin Yao, Yupeng Liu, Yao Zhang, Hui Dong, Ying Jin, Mengqiu Li, Jiong Qin, Hong Zheng, Yongxing Chen, Dongxiao Li, Haiyan Wei, Xiyuan Li, Huifeng Zhang, Min Huang, Chunyan Zhang, Yuwu Jiang, Desheng Liang, Yaping Tian, Yanling Yang
Published 2020-08-01