公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2004 | Detection of a Homozygous D645e Mutation of the Acid Alpha-Glucosidase Gene and Glycogen Deposition in Tissues in a Second-Trimester Fetus with Infantile Glycogen Storage Disease Type Ii | CHEN, CHIH-PING; LIN, SHUAN-PEI; TZEN, CHIN-YUAN; TSAI, FUU-JEN; HWU, WUH-LIANG | PRENATAL DIAGNOSIS | | | |
2023 | Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA | Lee, Yi-Hao; Su, Chin-Hui; CHE-YI LIN ; Lin, Hsiang-Yu; Lin, Shuan-Pei; Chuang, Chih-Kuang; Lee, Kuo-Sheng | Journal of personalized medicine | 2 | 1 | |
2017 | Molecular cytogenetic characterization and prenatal diagnosis of familial Xp22.33 microdeletion encompassing short stature homeobox gene in a male fetus with a favorable outcome | Chen, Chih-Ping; TSANG-MING KO ; Wang, Liang-Kai; Lin, Shuan-Pei; Chern, Schu-Rern; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Shin-Wen; Yang, Chien-Wen; Town, Dai-Dyi; Lee, Meng-Shan; Wang, Wayseen | Taiwanese journal of obstetrics & gynecology | 7 | 6 | |
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 | |
2023 | Phenotype, genotype, and clinical outcome of Taiwanese with congenital nephrotic syndrome | Tseng, Min-Hua; Lin, Shih-Hua; Fan, Wen-Lang; Wu, Ta-Wei; Lin, Shuan-Pei; Ding, Jhao-Jhuang; I-JUNG TSAI ; Tsai, Jeng-Daw | Journal of the Formosan Medical Association = Taiwan yi zhi | 0 | 0 | |
2007 | Prenatal Diagnosis and Genetic Counseling of Mucopolysaccharidosis Type Ii (Hunter Syndrome) | CHEN, CHIH-PING; LIN, SHUAN-PEI; TZEN, CHIN-YUAN; HWU, WUH-LIANG; CHERN, SCHU-RERN; WANG, WAY-SEEN | GENETIC COUNSELING | | | |
2023 | Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population | Hsu, Rai-Hseng; Lee, Chen-Hao; YIN-HSIU CHIEN ; Lin, Shuan-Pei; Hung, Miao-Zi; Chen, Nai-Chi; Lin, Yi-Lin; WUH-LIANG HWU ; NI-CHUNG LEE | Molecular genetics & genomic medicine | 0 | 0 | |