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Taiwan Academic Institutional Repository >
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"ni chung lee"
Showing items 26-35 of 226 (23 Page(s) Totally)
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| 臺大學術典藏 |
2022-02-14T23:55:57Z |
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; 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
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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
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Tsai, Meng Ju Melody; NI-CHUNG LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; YI-CHING TUNG |
| 臺大學術典藏 |
2022-01-15T00:08:14Z |
Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy
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Chen, Chih Ling; CHIEN-NAN LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; Chang, Tung Ming; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-01-15T00:07:54Z |
Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation
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Su, Tzu Hsuan; NI-CHUNG LEE; Wu, Chao Szu; STEVEN SHINN-FORNG PENG; PI-CHUAN FAN |
| 臺大學術典藏 |
2021-12-14T23:12:29Z |
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
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Lin, Ting Wei; Hu, Ya Chiao; YAO-HSU YANG; YIN-HSIU CHIEN; NI-CHUNG LEE; HSIN-HUI YU; BOR-LUEN CHIANG; LI-CHIEH WANG |
| 臺大學術典藏 |
2021-12-14T23:12:27Z |
Long-term efficacy and safety of eladocageneexuparvovec in patients with AADC deficiency
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CHUN-HWEI TAI; NI-CHUNG LEE; YIN-HSIU CHIEN; Byrne, Barry J.; Muramatsu, Shin Ichi; SHENG-HONG TSENG; WUH-LIANG HWU |
| 臺大學術典藏 |
2021-10-29T08:05:41Z |
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy
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CHIN-HSIEN LIN; Tsai, Pei I.; Lin, Han Yi; Hattori, Nobutaka; Funayama, Manabu; Jeon, Beomseok; Sato, Kota; Abe, Koji; Mukai, Yohei; Takahashi, Yuji; Li, Yuanzhe; Nishioka, Kenya; Yoshino, Hiroyo; Daida, Kensuke; Chen, Meng Ling; Cheng, Jay; Huang, Cheng Yen; SHIOU-RU TZENG; Wu, Yen Sheng; Lai, Hsing Jung; Tsai, Hsin Hsi; RUOH-FANG YEN; NI-CHUNG LEE; Lo, Wen Chun; Hung, Yu Chien; CHIH-CHIANG CHAN; Ke, Yi Ci; CHI-CHAO CHAO; SUNG-TSANG HSIEH; Farrer, Matthew; RUEY-MEEI WU |
| 臺大學術典藏 |
2021-09-14T23:19:06Z |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity
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Li, Jeng Lin; NI-CHUNG LEE; Chen, Pin Shiuan; Lee, Gin Hoong; RUEY-MEEI WU |
| 臺大學術典藏 |
2021-09-07T05:32:02Z |
Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2
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Hsieh, Paul Chen; CHEN-CHI WU; NI-CHUNG LEE; JUNG-HSIEN HSIEH; YI-HUA LIAO |
Showing items 26-35 of 226 (23 Page(s) Totally)
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