Detection of Very Low-Level Somatic Mosaic COL4A5 Splicing Variant in Asymptomatic Female Using Droplet Digital PCR

por Deng, Haiyue, Zhang, Yanqin, Ding, Jie, Wang, Fang
Publicado 2022

Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing

por Deng, Haiyue, Zhang, Yanqin, Ding, Jie, Wang, Fang
Publicado 2022

Interpretation of Autosomal Recessive Kidney Diseases With “Presumed Homozygous” Pathogenic Variants Should Consider Technical Pitfalls

por Deng, Haiyue, Zhang, Yanqin, Yao, Yong, Xiao, Huijie, Su, Baige, Xu, Ke, Guan, Na, Ding, Jie, Wang, Fang
Publicado 2020

Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type

por Wang, Cong, Liang, Shenghui, Xing, Shijia, Xu, Ke, Xiao, Huijie, Deng, Haiyue, Wang, Xiaoyuan, Chen, Liangyi, Ding, Jie, Wang, Fang
Publicado 2020

Diverse phenotypes in children with PAX2‐related disorder

por Deng, Haiyue, Zhang, Yanqin, Xiao, Huijie, Yao, Yong, Liu, Xiaoyu, Su, Baige, Zhang, Hongwen, Xu, Ke, Wang, Suxia, Wang, Fang, Ding, Jie
Publicado 2019

Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease

por Deng, Haiyue, Zhang, Yanqin, Xiao, Huijie, Yao, Yong, Zhang, Hongwen, Liu, Xiaoyu, Su, Baige, Guan, Na, Zhong, Xuhui, Wang, Suxia, Ding, Jie, Wang, Fang
Publicado 2020