Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Yi-duo He"'
Autor:
Hui-ming Yan, Zhi-mei Liu, Bei Cao, Victor Wei Zhang, Yi-duo He, Zheng-jun Jia, Hui Xi, Jing Liu, Fang Fang, Hua Wang
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of
Externí odkaz:
https://doaj.org/article/01253181e8dc4fe68bfee6bf704d2074
Autor:
Yingting Li, Xiaoqing Ye, Jing-Si Chen, Wei-Ran Huang, Fu-man Jiang, Yinong Xie, Victor Wei Zhang, Wei Jian, Nan Li, Jing Wang, Dunjin Chen, Yi-Duo He, Min Chen
Publikováno v:
Taiwanese Journal of Obstetrics and Gynecology. 59:451-455
Objective The L1 cell adhesion molecule (L1CAM) gene, encodes the L1 cell adhesion molecule, is involved in the central nervous system development. Its mutations result in L1 syndrome which is associated with brain malformation and nervous developmen
Autor:
Hui-Ming, Yan, Zhi-Mei, Liu, Bei, Cao, Victor Wei, Zhang, Yi-Duo, He, Zheng-Jun, Jia, Hui, Xi, Jing, Liu, Fang, Fang, Hua, Wang
Publikováno v:
Frontiers in Genetics
Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far. Here, we report a case series of