Parental Genetic Variants, MTHFR 677C>T and MTRR 66A>G, Associated Differently with Fetal Congenital Heart Defect

by Qian-nan Guo, Hong-dan Wang, Li-zhen Tie, Tao Li, Hai Xiao, Jian-gang Long, Shi-xiu Liao
Published 2017-01-01

Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family

by Hong-Yan Liu, Jia Huang, Dong Wu, Tao Li, Liang-Jie Guo, Qian-Nan Guo, Hong-Dan Wang, Rui-Li Wang, Yue Wang
Published 2016-01-01

Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family

by Hong-Yan Liu, Ji-Fang Xiao, Jia Huang, Yue Wang, Dong Wu, Tao Li, Hong-Dan Wang, Liang-Jie Guo, Qian-Nan Guo, Hai Xiao, Xue Lyu, Zheng-Hong Yu
Published 2017-01-01