A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia

por Zheng, Bixia, Zhang, Yayuan, Jin, Yu, Yu, Haiguo
Publicado 2014

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

From glucose sensing to exocytosis: takes from maturity onset diabetes of the young

por Samadli, Sama, Zhou, Qiaoli, Zheng, Bixia, Gu, Wei, Zhang, Aihua
Publicado 2023

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

Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant

por Yuan, Yeqing, Zhou, Qiaoli, Wang, Chunli, Zhou, Wei, Gu, Wei, Zheng, Bixia
Publicado 2023

PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review

por Yang, Xiao, Chen, Jing, Zheng, BiXia, Liu, Xianyu, Cao, Zixuan, Wang, Xiaoyu
Publicado 2020

The Polymorphic AluYb8 Insertion in the MUTYH Gene is Associated with Reduced Type 1 Protein Expression and Reduced Mitochondrial DNA Content

por Guo, Wenwen, Zheng, Bixia, Cai, Zhenming, Xu, Lizhi, Guo, Dong, Cao, Lili, Wang, Yaping
Publicado 2013

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

Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases

por Lu, Fen, Xu, Xin, Zheng, Bixia, Wang, Chunli, Zhou, Wei, Tang, Jian, Zhao, Xiaoke
Publicado 2023

Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability

por Li, Sinan, Zhang, Wenxin, Liang, Piao, Zhu, Min, Zheng, Bixia, Zhou, Wei, Wang, Chunli, Zhao, Xiaoke
Publicado 2023

Association of Base Excision Repair Gene Polymorphisms with ESRD Risk in a Chinese Population

por Cai, Zhenming, Chen, Huimei, Tao, Jing, Guo, Wenwen, Liu, Xiufang, Zheng, Bixia, Sun, Wei, Wang, Yaping
Publicado 2012

Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency

por Zhou, Qiaoli, Wang, Dandan, Wang, Chunli, Zheng, Bixia, Liu, Qianqi, Zhu, Ziyang, Jia, Zhanjun, Gu, Wei
Publicado 2020

Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency

por Wang, Lan, Zhang, Dan, Fan, Cheng, Zhou, Xiaoying, Liu, Zhifeng, Zheng, Bixia, Zhu, Li, Jin, Yu
Publicado 2020

A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene

por Zhou, Xiaoying, Zhou, Wei, Wang, Chunli, Wang, Lan, Jin, Yu, Jia, Zhanjun, Liu, Zhifeng, Zheng, Bixia
Publicado 2021

Case Report: A Novel Non-Canonical Splice Site Variant (c.1638+7T>C) in TRPM6 Cause Primary Homagnesemia With Secondary Hocalcemia

por Song, Jiayu, Lei, Juan, Zhang, Jianxia, Zhang, Aiqing, Gan, Weihua, Zheng, Bixia, Wang, Chunli, Gong, Jing
Publicado 2022

The application research of xTAG GPP multiplex PCR in the diagnosis of persistent and chronic diarrhea in children

por Wang, Chunli, Zhou, Xiaoying, Zhu, Mengshu, Yin, Hanjun, Tang, Jiamei, Huang, Yan, Zheng, Bixia, Jin, Yu, Liu, Zhifeng
Publicado 2020

Whole‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome

por Zheng, Bixia, Chen, Qiuxia, Wang, Chunli, Zhou, Wei, Chen, Ying, Ding, Guixia, Jia, Zhanjun, Zhang, Aihua, Huang, SongMing
Publicado 2019

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

A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1

por Che, Ruochen, Wang, Chunli, Zheng, Bixia, Zhang, Xuejuan, Ding, Guixia, Zhao, Fei, Jia, Zhanjun, Zhang, Aihua, Huang, Songming, Feng, Quancheng
Publicado 2020

A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease

por Li, Huixia, Wang, Chunli, Che, Ruochen, Zheng, Bixia, Zhou, Wei, Huang, Songming, Jia, Zhanjun, Zhang, Aihua, Zhao, Fei, Ding, Guixia
Publicado 2023