Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathy

por Dai, Yi, Liang, Shengran, Dong, Xue, Zhao, Yanhuan, Ren, Haitao, Guan, Yuzhou, Yin, Haifang, Li, Chen, Chen, Lin, Cui, Liying, Banerjee, Santasree
Publicado 2018

Light-Chain Amyloidosis With Peripheral Neuropathy as an Initial Presentation

por Qian, Min, Qin, Lan, Shen, Kaini, Guan, Hongzhi, Ren, Haitao, Zhao, Yanhuan, Guan, Yuzhou, Zhou, Daobin, Peng, Bin, Li, Jian, Chen, Lin
Publicado 2021

An update on the clinical diagnostic value of β-hCG and αFP for intracranial germ cell tumors

por Hu, Mingming, Guan, Hongzhi, Lau, Ching C., Terashima, Keita, Jin, Zimeng, Cui, Liying, Wang, Yuzhou, Li, Guilin, Yao, Yong, Guo, Yi, Li, Yan Michael, Zhong, Dingrong, Xiao, Juan, Wan, Xirun, Lian, Xin, Feng, Feng, Ren, Haitao, Zhao, Yanhuan, Cheng, Xinqi, Gu, Feng
Publicado 2016

A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy

por Yang, Xinzhuang, Zhang, Dingding, Shen, Si, Li, Pidong, Li, Mengjie, Niu, Jingwen, Ma, Dongrui, Xu, Dan, Li, Shuangjie, Guo, Xueyu, Wang, Zhen, Zhao, Yanhuan, Ren, Haitao, Ling, Chao, Wang, Yang, Fan, Yu, Shen, Jianxiong, Zhu, Yicheng, Wang, Depeng, Cui, Liying, Chen, Lin, Shi, Changhe, Dai, Yi
Publicado 2023