Visible-Light-Promoted Direct C3-H Cyanomethylation of 2H-Indazoles

por Mi, Xia, Cui, Beibei, Song, Jinqing, Zhang, Jingyu
Publicado 2023

Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

por Kang, Lulu, Liu, Yi, Jin, Ying, Li, Mengqiu, Song, Jinqing, Zhang, Yi, Zhang, Yao, Yang, Yanling
Publicado 2020

Reduced 24-h Sodium Excretion Is Associated With a Disturbed Plasma Acylcarnitine Profile in Vasovagal Syncope Children: A Pilot Study

por Song, Jinqing, Tao, Chunyan, Chen, Guozhen, Chen, Selena, Xu, Wenrui, Du, Junbao, Yang, Yanling, Huang, Yaqian
Publicado 2020

Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital

por Liu, Yi, Chen, Zhehui, Dong, Hui, Ding, Yuan, He, Ruxuan, Kang, Lulu, Li, Dongxiao, Shen, Ming, Jin, Ying, Zhang, Yao, Song, Jinqing, Tian, Yaping, Cao, Yongtong, Liang, Desheng, Yang, Yanling
Publicado 2022

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

por Chen, Zhehui, Dong, Hui, Liu, Yupeng, He, Ruxuan, Song, Jinqing, Jin, Ying, Li, Mengqiu, Liu, Yi, Liu, Xueqin, Yan, Hui, Qi, Jianguang, Wang, Fang, Xiao, Huijie, Zheng, Hong, Kang, Lulu, Li, Dongxiao, Zhang, Yao, Yang, Yanling
Publicado 2022

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria

por Liu, Yupeng, Chen, Zhehui, Kang, Lulu, He, Ruxuan, Song, Jinqing, Liu, Yi, Shi, Chunyan, Chen, Junya, Dong, Hui, Zhang, Yao, Ma, Yanyan, Wu, Tongfei, Wang, Qiao, Ding, Yuan, Li, Xiyuan, Li, Dongxiao, Li, Mengqiu, Jin, Ying, Qin, Jiong, Yang, Yanling
Publicado 2022

Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases

por He, Ruxuan, Mo, Ruo, Shen, Ming, Kang, Lulu, Song, Jinqing, Liu, Yi, Chen, Zhehui, Zhang, Hongwu, Yao, Hongxin, Liu, Yupeng, Zhang, Yao, Dong, Hui, Jin, Ying, Li, Mengqiu, Qin, Jiong, Zheng, Hong, Chen, Yongxing, Li, Dongxiao, Wei, Haiyan, Li, Xiyuan, Zhang, Huifeng, Huang, Min, Zhang, Chunyan, Jiang, Yuwu, Liang, Desheng, Tian, Yaping, Yang, Yanling
Publicado 2020