Two heterozygous mutations in the calcium/calmodulin‐dependent serine protein kinase gene (CASK) in cases with developmental disorders

por Yang, Kunfang, Lin, Longlong, Yuan, Fang, Li, Xiaoguang, Liu, Zhiping, Lan, Xiaoping, Wang, Yilin, Ren, Yun, Li, Jiaoyan, Chen, Yucai
Publicado 2022

Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH

por Yang, Kunfang, Yin, Rongrong, Lan, Xiaoping, Zhang, Yuanfeng, Cheng, Hongyi, Wang, Simei, Wang, Chunmei, Lu, Yanfen, Xi, Jiaming, Lu, Qin, Huang, Jianjun, Chen, Yucai
Publicado 2018

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report

por Yang, Kunfang, Cheng, Hongyi, Yuan, Fang, Meng, Linyi, Yin, Rongrong, Zhang, Yuanfeng, Wang, Simei, Wang, Chunmei, Lu, Yanfen, Xi, Jiaming, Lu, Qin, Chen, Yucai
Publicado 2018

Mitochondrial DNA Rearrangement Spectrum in Brain Tissue of Alzheimer’s Disease: Analysis of 13 Cases

por Chen, Yucai, Liu, Changsheng, Parker, William Davis, Chen, Hongyi, Beach, Thomas G., Liu, Xinhua, Serrano, Geidy E., Lu, Yanfen, Huang, Jianjun, Yang, Kunfang, Wang, Chunmei
Publicado 2016