公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2014 | Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese | Wu, Yi-Lei; WEN-YU TSAI ; Hwang, Daw-Yang; Hsiao, Hui-Pin; Ting, Wei-Hsin; Huang, Chi-Yu; Tsai, Wen-Yu ; Chen, Hung-Chun; Chao, Mei-Chyn; Lo, Fu-Sung; Chen, Yen-Hsu; Tsai, Jeng-Daw; Yang, Stone; Shih, Shin-Lin; Lin, Shuan-Pei; Lin, Chiung-Ling; Lee, Yann-Jinn | PLoS ONE | 9 | 6 | |
2009 | Newborn Screening for Fabry Disease in Taiwan Reveals a High Incidence of the Later-Onset Gla Mutation C.936+919g > a (Ivs4+919g > a) | HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI- CHUNG; CHIANG, SHU-CHUAN; HUANG, AI-CHU; YEH, HUI-YING; CHAO, MEI-CHYN; LIN, SHIO-JEAN; HSU, LI-WEN | HUMAN MUTATION | | | |
2005 | Prevalence of the Fmr1 Mutation in Taiwan Assessed by Large-Scale Screening of Newborn Boys and Analysis of Dxs548-Fraxac1 Haplotype | TZENG, CHING-CHERNG; TSAI, LI-PING; HWU, WUH-LIANG; LIN, SHIO-JEAN; CHAO, MEI-CHYN; JONG, YUH-JYH; CHU, SHAO-YIN; LU, CHIN-LI | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | | | |