Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding <i>ERCC6</i> Gene in a Taiwanese Boy with Cockayne Syndrome

por Ching-Ming Lin, Jay-How Yang, Hwei-Jen Lee, Yu-Pang Lin, Li-Ping Tsai, Chih-Sin Hsu, G. W. Gant Luxton, Chih-Fen Hu
Publicado 2021

Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan

por Ying-Ju Lin, Wen-Ling Liao, Chung-Hsing Wang, Li-Ping Tsai, Chih-Hsin Tang, Chien-Hsiun Chen, Jer-Yuarn Wu, Wen-Miin Liang, Ai-Ru Hsieh, Chi-Fung Cheng, Jin-Hua Chen, Wen-Kuei Chien, Ting-Hsu Lin, Chia-Ming Wu, Chiu-Chu Liao, Shao-Mei Huang, Fuu-Jen Tsai
Publicado 2017

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome

por Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, Ru-Yi Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao-Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Meng-Che Tsai, Mei-Chyn Chao, Li-Ping Tsai, Chia-Feng Yang, Pen-Hua Su, Yu-Wen Pan, Chen-Hao Lee, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin
Publicado 2021