Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease

por Hui, Xiaoying, Yang, Jingmin, Zhang, Jing, Sun, Jinqiao, Wang, Xiaochuan
Publicado 2022

Clinical Characteristics and Immunogenetics of BCGosis/BCGitis in Chinese Children: A 6 Year Follow-Up Study

por Ying, Wenjing, Sun, Jinqiao, Liu, Danru, Hui, Xiaoying, Yu, Yeheng, Wang, Jingyi, Wang, Xiaochuan
Publicado 2014

Confocal laser scanning microscopy to estimate nanoparticles’ human skin penetration in vitro

por Zou, Ying, Celli, Anna, Zhu, Hanjiang, Elmahdy, Akram, Cao, Yachao, Hui, Xiaoying, Maibach, Howard
Publicado 2017

Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review

por Sun, Bijun, Yang, Mi, Hou, Jia, Wang, Wenjie, Ying, Wenjing, Hui, Xiaoying, Zhou, Qinhua, Yao, Haili, Sun, Jinqiao, Wang, Xiaochuan
Publicado 2022

Variant Type X91(+) Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort

por Sun, Bijun, Zhu, Zeyu, Hui, Xiaoying, Sun, Jinqiao, Wang, Wenjie, Ying, Wenjing, Zhou, Qinhua, Yao, Haili, Hou, Jia, Wang, Xiaochuan
Publicado 2022

LIG4 syndrome: clinical and molecular characterization in a Chinese cohort

por Sun, Bijun, Chen, Qiuyu, Wang, Ying, Liu, Danru, Hou, Jia, Wang, Wenjie, Ying, Wenjing, Hui, Xiaoying, Zhou, Qinhua, Sun, Jinqiao, Wang, Xiaochuan
Publicado 2020

Efficacy of tocilizumab therapy in a patient with severe pancytopenia associated with a STAT3 gain-of-function mutation

por Wang, Wenjie, Liu, Luyao, Hui, Xiaoying, Wang, Ying, Ying, Wenjing, Zhou, Qinhua, Hou, Jia, Yang, Mi, Sun, Bijun, Sun, Jinqiao, Wang, Xiaochuan
Publicado 2021

Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review

por Sun, Bijun, Li, Qifan, Dong, Xiaolong, Hou, Jia, Wang, Wenjie, Ying, Wenjing, Hui, Xiaoying, Zhou, Qinhua, Yao, Haili, Sun, Jinqiao, Wang, Xiaochuan
Publicado 2022

Rapid diagnosis of Talaromyces marneffei infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity

por Liu, Lipin, Sun, Bijun, Ying, Wenjing, Liu, Danru, Wang, Ying, Sun, Jinqiao, Wang, Wenjie, Yang, Mi, Hui, Xiaoying, Zhou, Qinhua, Hou, Jia, Wang, Xiaochuan
Publicado 2022

Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene

por Wang, Wenjie, Min, Qing, Lai, Nannan, Csomos, Krisztian, Wang, Ying, Liu, Luyao, Meng, Xin, Sun, Jinqiao, Hou, Jia, Ying, Wenjing, Zhou, Qinhua, Sun, Bijun, Hui, Xiaoying, Ujhazi, Boglarka, Gordon, Sumai, Buchbinder, David, Schuetz, Catharina, Butte, Manish, Walter, Jolan E., Wang, Xiaochuan, Wang, Ji-Yang
Publicado 2022