Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy

por Liao, Yi-Chu, Tsai, Pei-Chien, Lin, Thy-Sheng, Hsiao, Cheng-Tsung, Chao, Nai-Chen, Lin, Kon-Ping, Lee, Yi-Chung
Publicado 2017

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS

por Tian, Xia, Liang, Wen-Chen, Feng, Yanming, Wang, Jing, Zhang, Victor Wei, Chou, Chih-Hung, Huang, Hsien-Da, Lam, Ching Wan, Hsu, Ya-Yun, Lin, Thy-Sheng, Chen, Wan-Tzu, Wong, Lee-Jun, Jong, Yuh-Jyh
Publicado 2015