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"lee ni chung"的相关文件
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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 |
2022-05-17T06:07:32Z |
Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation
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Su, Tzu-Hsuan; Lee, Ni-Chung; Wu, Chao-Szu; STEVEN SHINN-FORNG PENG; Fan, Pi-Chuan |
| 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 |
2022-03-17T03:07:48Z |
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
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Lin, Ting-Wei; Hu, Ya-Chiao; Yang, Yao-Hsu; Chien, Yin-Hsiu; Lee, Ni-Chung; Yu, Hsin-Hui; Chiang, Bor-Luen; LI-CHIEH WANG |
| 臺大學術典藏 |
2022-03-09T06:42:54Z |
Comparison of GATK and DeepVariant by trio sequencing
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Lin, Yi-Lin; Chang, Pi-Chuan; Hsu, Ching; Hung, Miao-Zi; Chien, Yin-Hsiu; WUH-LIANG HWU; Lai, FeiPei; Lee, Ni-Chung |
| 臺大學術典藏 |
2022-03-09T06:18:20Z |
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; WUH-LIANG HWU; Tung, Yi-Ching |
| 臺大學術典藏 |
2022-03-09T06:10:32Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
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Lee, Ni-Chung; 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; Chien, Yin-Hsiu |
| 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 |
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