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机构 日期 题名 作者
臺大學術典藏 2022-09-20T07:27:47Z Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency Tai, Chun-Hwei; Lee, Ni-Chung; Chien, Yin-Hsiu; Byrne, Barry J; Muramatsu, Shin-Ichi; SHENG-HONG TSENG; Hwu, Wuh-Liang
臺大學術典藏 2022-09-06T02:04:47Z The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis Hsueh, Hsueh-Wen; Weng, Wen-Chin; Fan, Pi-Chuan; Chien, Yin-Hsiu; Yang, Feng-Jung; WANG-TSO LEE; Lin, Ru-Jen; Hwu, Wuh-Liang; Yang, Chih-Chao; Lee, Ni-Chung
臺大學術典藏 2022-06-17T07:01:50Z Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy Chen, Chih-Ling; CHIEN-NAN LEE; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Chang, Tung-Ming; Lee, Ni-Chung
臺大學術典藏 2022-04-01T07:28:43Z 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; Lee, Ni-Chung; Chien, Yin-Hsiu; Hwu, Wuh-Liang; YI-CHING TUNG
臺大學術典藏 2022-03-10T06:22:49Z 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; Hwu, Wuh-Liang; Chien, Yin-Hsiu
臺大學術典藏 2022-03-10T06:14:07Z 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; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Tung, Yi-Ching
臺大學術典藏 2021-12-24T02:48:28Z Long-term efficacy and safety of eladocageneexuparvovec in patients with AADC deficiency Tai, Chun-Hwei; Lee, Ni-Chung; Chien, Yin-Hsiu; Byrne, Barry J; Muramatsu, Shin-Ichi; SHENG-HONG TSENG; Hwu, Wuh-Liang
臺大學術典藏 2021-12-24T02:28:17Z Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort Chen, Szu-Ju; BO-CHING LEE; Lee, Ni-Chung; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lin, Chin-Hsien
臺大學術典藏 2021-10-06T08:13:22Z Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios Lin, Shin-Yu; GWO-TSANN CHUANG; Hung, Chien-Hui; Lin, Wei-Chou; Jeng, Yung-Ming; TING-AN YEN; Chang, Karine; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Chien-Nan; Tsai, I-Jung; Lee, Ni-Chung
臺大學術典藏 2021-09-28T05:41:39Z Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios SHIN-YU LIN; Chuang, Gwo-Tsann; Hung, Chien-Hui; Lin, Wei-Chou; Jeng, Yung-Ming; TING-AN YEN; Chang, Karine; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Chien-Nan; Tsai, I-Jung; Lee, Ni-Chung

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