Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria

por Peng, Wei, Ma, Xiu-Wei, Yang, Xiao, Zhang, Wan-Qiao, Yan, Lei, Wang, Yong-Xia, Liu, Xin, Wang, Yan, Feng, Zhi-Chun
Publicado 2018

Gene-Focused Networks Underlying Phenotypic Convergence in a Systematically Phenotyped Cohort With Heterogeneous Intellectual Disability

por Wang, Yan, Zhu, Li-Na, Ma, Xiu-Wei, Yang, Fang, Xu, Xi-Lin, Yang, Yao, Yang, Xiao, Peng, Wei, Zhang, Wan-Qiao, Liang, Jin-Yu, Zhu, Wei-Dong, Jiang, Tai-Jiao, Zhang, Xin-Lei, Feng, Zhi-Chun
Publicado 2020