Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic a...

por Zheng, Bixia, Hu, Guorui, Yu, Jin, Liu, Zhifeng
Publicado 2014

Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing

por HU, GUORUI, HE, PING, LIU, ZHIFENG, CHEN, QIAN, ZHENG, BIXIA, ZHANG, QIHUA
Publicado 2014

A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report

por Hu, Guorui, Zeng, Jingxia, Wang, Chunli, Zhou, Wei, Jia, Zhanjun, Yang, Jun, Zheng, Bixia
Publicado 2020

Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray

por Hu, Guorui, Fan, Yanjie, Wang, Lili, Yao, Ru-en, Huang, Xiaodong, Shen, Yiping, Yu, Yongguo, Gu, Xuefan
Publicado 2016

Eosinophilic colitis in a boy with a novel XIAP mutation: a case report

por Tang, Jiamei, Zhou, Xiaoying, Wang, Lan, Hu, Guorui, Zheng, Bixia, Wang, Chunli, Lu, Yan, Jin, Yu, Guo, Hongmei, Liu, Zhifeng
Publicado 2020