A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2)

por Wang, Xin Hua, Zhang, Lin Mei, Yang, Xue, Zhou, Shui Zhen
Publicado 2020

Clinical Characteristics and Outcomes of Pediatric Cerebral Venous Sinus Thrombosis: An Analysis of 30 Cases in China

por Wang, Xin-Hua, Zhang, Lin-Mei, Chai, Yi-Ming, Wang, Ji, Yu, Li-Fei, Zhou, Shui-Zhen
Publicado 2019

A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report

por Xu, Yan, Wu, Bing-Bing, Wang, Hui-Jun, Zhou, Shui-Zhen, Cheng, Guo-Qiang, Zhou, Yuan-Feng
Publicado 2020

Current Status, Diagnosis, and Treatment Recommendation for Tic Disorders in China

por Liu, Zhi-Sheng, Cui, Yong-Hua, Sun, Dan, Lu, Qing, Jiang, Yu-Wu, Jiang, Li, Wang, Jia-Qin, Luo, Rong, Fang, Fang, Zhou, Shui-Zhen, Wang, Yi, Cai, Fang-Cheng, Lin, Qing, Xiong, Lan, Zheng, Yi, Qin, Jiong
Publicado 2020