| 臺大學術典藏 |
2021-12-14T23:12:29Z |
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
|
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
|
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
|
Hsieh, Paul Chen; CHEN-CHI WU; NI-CHUNG LEE; JUNG-HSIEN HSIEH; YI-HUA LIAO |
| 臺大學術典藏 |
2021-08-15T00:08:29Z |
Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome
|
Fan, Sung Pin; HSUEH-WEN HSUEH; Huang, Hsin Chieh; Chang, Koping; NI-CHUNG LEE; PEI-HSIN HUANG; Chih-Chao Yang |
| 臺大學術典藏 |
2021-07-15T05:32:20Z |
Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28
|
Chen, Pin Shiuan; NI-CHUNG LEE; Fan, Sung Pin; CHUN-HWEI TAI; Huang, Chang Jin; Huang, Wei Hao; Jeng, Po Wei; JYH-HORNG CHEN; CHIN-HSIEN LIN |
| 臺大學術典藏 |
2021-07-15T05:31:59Z |
Impact of genetic tests on survivors of paediatric sudden cardiac arrest
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SHUENN-NAN CHIU; JYH-MING JIMMY JUANG; WEI-CHIEH TSENG; WEN-PIN CHEN; NI-CHUNG LEE; MEI-HWAN WU |
| 臺大學術典藏 |
2021-07-15T05:31:28Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
|
SHIN-YU LIN; GWO-TSANN CHUANG; Hung, Chien Hui; WEI-CHOU LIN; YUNG-MING JENG; TING-AN YEN; Chang, Karine; YIN-HSIU CHIEN; WUH-LIANG HWU; CHIEN-NAN LEE; I-JUNG TSAI; NI-CHUNG LEE |
| 臺大學術典藏 |
2021-07-14T03:36:13Z |
The Ethics and Guidelines of Next-Generation Sequencing Genetic Testing and Counseling
|
DANIEL FU-CHANG TSAI; Yu-Chen Juang; Yin-Hsiu Chien; Ni-Chung Lee; Hung Chih-Yu Wang; Shuan-Pei Lin; Wuh-Liang Hwu |
