Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

by Kuerbanjiang Abuduxikuer, Zhong-Die Li, Xin-Bao Xie, Yu-Chuan Li, Jing Zhao, Jian-She Wang
Published 2019-06-01

A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report

by Jia-Qi Li, Xin-Bao Xie, Jia-Yan Feng, Lian Chen, Kuerbanjiang Abuduxikuer, Yi Lu, Yu-Chuan Li, Jian-She Wang
Published 2018-06-01

A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.

by Neng-Li Wang, Yu-Lan Lu, Ping Zhang, Mei-Hong Zhang, Jing-Yu Gong, Yi Lu, Xin-Bao Xie, Yi-Ling Qiu, Yan-Yan Yan, Bing-Bing Wu, Jian-She Wang
Published 2016-01-01

NTCP Deficiency Causes Gallbladder Abnormalities in Mice and Human Beings

by Fengfeng Mao, Meng-Xuan Wang, Xinfeng Hou, Zhongmin Zhou, Yan-Yan Yan, Ling-Juan Fang, Zexi Tan, Wei-Yuan Fang, Teng Liu, Wenhui He, Cong Li, Xin-Bao Xie, Shi-Qi Lu, Jianhua Sui, Fengchao Wang, Jun Han, Jian-She Wang, Wenhui Li
Published 2021-01-01