Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra‐Familial Heterogeneity

por Li, Jeng‐Lin, Lee, Ni‐Chung, Chen, Pin‐Shiuan, Lee, Gin Hoong, Wu, Ruey‐Meei
Publicado 2021

Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing

por Chen, Pin-Shiuan, Chao, Chi-Chao, Tsai, Li-Kai, Huang, Hsin-Yi, Chien, Yin-Hsiu, Huang, Pei-Hsin, Hwu, Wuh-Liang, Hsieh, Sung-Tsang, Lee, Ni-Chung, Hsueh, Hsueh-Wen, Yang, Chih-Chao
Publicado 2023