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Showing items 1-10 of 326 (33 Page(s) Totally)
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| 臺大學術典藏 |
2022-09-20T07:27:47Z |
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 |
Showing items 1-10 of 326 (33 Page(s) Totally)
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