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机构 日期 题名 作者
臺大學術典藏 2022-03-28T02:45:53Z Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening Lee N.-C.; Chang K.-L.; in 't Groen S.L.M.; de Faria D.O.S.; Huang H.-J.; Pijnappel W.W.M.P.; Hwu W.-L.; YIN-HSIU CHIEN
臺大學術典藏 2022-03-28T02:45:53Z Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review Tsai M.-J.M.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tung Y.-C.
臺大學術典藏 2022-03-28T02:45:52Z Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy Tang Y.-C.; Tsui P.-H.; Wang C.-Y.; Weng H.-L.; YIN-HSIU CHIEN; Yang C.-Y.; Weng W.-C.
臺大學術典藏 2022-03-28T02:45:46Z Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency Tai C.-H.; Lee N.-C.; YIN-HSIU CHIEN; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; Hwu W.-L.
臺大學術典藏 2022-03-14T23:45:35Z Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy Tang, Ya Chun; Tsui, Po Hsiang; Wang, Chiao Yin; Weng, Hui Ling; YIN-HSIU CHIEN; Yang, Chung Yi; WEN-CHIN WENG
臺大學術典藏 2022-02-18T08:09:25Z 大規模人口遺傳疾病篩檢之倫理議題與國家政策 Fu-Chang Tsai; Lo-Yun Chung; Yin-Hsiu Chien; WUH-LIANG HWU
臺大學術典藏 2022-02-14T23:55:57Z Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening NI-CHUNG LEE; Chang, Kai Ling; in 't Groen, Stijn L.M.; de Faria, Douglas O.S.; Huang, Hsiang Ju; Pijnappel, W. W.M.Pim; WUH-LIANG ​​HWU; YIN-HSIU CHIEN
臺大學術典藏 2022-02-14T23:55:57Z Comparison of GATK and DeepVariant by trio sequencing Lin, Yi Lin; Chang, Pi Chuan; Hsu, Ching; Hung, Miao Zi; YIN-HSIU CHIEN; WUH-LIANG ​​HWU; FEI-PEI LAI; NI-CHUNG LEE
臺大學術典藏 2022-02-14T23:55:56Z Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review Tsai, Meng Ju Melody; NI-CHUNG LEE; YIN-HSIU CHIEN; WUH-LIANG ​​HWU; YI-CHING TUNG
臺大學術典藏 2022-02-14T23:55:56Z Advanced therapeutic strategy for hereditary neuromuscular diseases WUH-LIANG ​​HWU; Muramatsu, Shin Ichi; YIN-HSIU CHIEN; Byrne, Barry J.

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