公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2016 | Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; SHAU-PING LIN | Orphanet Journal of Rare Diseases | 22 | 24 | |
2023 | Changing clinical manifestations of Gaucher disease in Taiwan | Lu, Wen-Li; YIN-HSIU CHIEN ; Tsai, Fuu-Jen; WUH-LIANG HWU ; Chou, Yen-Yin; Chu, Shao-Yin; MENG-JU LI ; Lee, An-Ju; Liao, Chao-Chuan; Wang, Chung-Hsing; NI-CHUNG LEE | Orphanet journal of rare diseases | 0 | 0 | |
2023 | Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases | Chen, Chi-Bo; Jacob Shujui Hsu ; PEI-LUNG CHEN ; JIA-FENG WU ; Li, Huei-Ying; Liou, Bang-Yu; MEI-HWEI CHANG ; YEN-HSUAN NI ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Chou, Yen-Yin; Yang, Yao-Jong; NI-CHUNG LEE ; HUEY-LING CHEN | The Journal of Pediatrics | 1 | 0 | |
2019 | Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? | EN-TING WU ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Hsu, Ching; Chen, Ting-Fu; Chen, Nai-Qi; HUNG-CHIEH CHOU ; PO-NIEN TSAO ; PI-CHUAN FAN ; I-JUNG TSAI ; Lin, Shuan-Pei; Hsieh, Wu-Shiun; Chang, Tung-Ming; CHI-NIEN CHEN ; Lee, Chen-Hao; Chou, Yen-Yin; Chiu, Pao-Chin; Tsai, Wen-Hui; Hsiung, Hann-Chang; FEI-PEI LAI ; NI-CHUNG LEE | Pediatric Critical Care Medicine | 27 | 23 | |
2016 | Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Wang, Chung-Hsing; YIN-HSIU CHIEN ; Wang, Yu-Mei; Tsai, Fuu-Jen; Chou, Yen-Yin; Lin, Shio Jean; Pan, Hui-Ping; Niu, Dau-Ming; WUH-LIANG HWU ; Ke, Yu-Yuan; SHAU-PING LIN | Molecular Genetics and Metabolism Reports | 21 | 18 | |
2021 | PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports | Chang, Yu-Ming; Chen, Chih-Chia; NI-CHUNG LEE ; Sung, Junne-Ming; Chou, Yen-Yin; Chiou, Yuan-Yow | Frontiers in pediatrics | 6 | 5 | |
2022 | Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome | Ou, Tsung-Ying; Tsai, Meng-Che; Kuo, Pao-Lin; NI-CHUNG LEE ; Chou, Yen-Yin | Taiwanese journal of obstetrics & gynecology | 0 | 0 | |