Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report

by Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao, Changying Chen
Published 2018-05-01

Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH

by Dongling Liu, Xijiang Hu, Xiwen Jiang, Bo Gao, Cheng Wan, Changying Chen
Published 2017-11-01

Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China.

by Zongjie Hao, Denggang Fu, Yang Ming, Jinlong Yang, Qi Huang, Weilong Lin, Huan Zhang, Bin Zhang, Aifen Zhou, Xijiang Hu, Cong Yao, Yunping Dong, Huijun Z Ring, Brian Z Ring
Published 2018-01-01