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"lee ni chung"的相關文件
顯示項目 1-25 / 128 (共6頁)
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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 |
| 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 |
| 臺大學術典藏 |
2021-09-14T07:38:31Z |
Impact of genetic tests on survivors of paediatric sudden cardiac arrest
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Chiu, Shuenn-Nan; Juang, Jyh-Ming Jimmy; WEI-CHIEH TSENG; Chen, Wen-Pin; Lee, Ni-Chung; Wu, Mei-Hwan |
| 臺大學術典藏 |
2021-06-25T08:17:46Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
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Cho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; SHIH-YAO LIU; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; Tung, Yi-Ching |
| 臺大學術典藏 |
2021-06-25T08:10:47Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
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Cho, Chih-Yi; Tsai, Wen-Yu; CHENG-TING LEE; Liu, Shih-Yao; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; Tung, Yi-Ching |
| 臺大學術典藏 |
2021-06-25T08:03:19Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
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Cho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; YI-CHING TUNG |
| 臺大學術典藏 |
2021-06-10T07:29:35Z |
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan
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Kuo, Yih-Chih; Hsueh, Hsueh-Wen; Hsueh, Sung-Ju; Lee, Ni-Chung; Hsieh, Ming-Ju; Chao, Chi-Chao; YIN-HSIU CHIEN; Huang, Pei-Hsin; Yang, Chih-Chao |
| 臺大學術典藏 |
2021-06-10T07:27:58Z |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
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Weng, Wen-Chin; Hsu, Yu-Kan; Chang, Fu-Man; Lin, Chun-Yen; Hwu, Wuh-Liang; Lee, Wang-Tso; Lee, Ni-Chung; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2021-06-10T07:26:30Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
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Cho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; YIN-HSIU CHIEN; Hwu, Wuh-Liang; Lee, Ni-Chung; Tung, Yi-Ching |
| 臺大學術典藏 |
2021-04-23T06:44:08Z |
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan
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Kuo, Yih-Chih; Hsueh, Hsueh-Wen; Hsueh, Sung-Ju; Lee, Ni-Chung; MING-JU HSIEH; Chao, Chi-Chao; Chien, Yin-Hsiu; Huang, Pei-Hsin; Yang, Chih-Chao |
| 臺大學術典藏 |
2020-07-31T08:36:49Z |
Thymidine kinase 2 deficiency-induced adult-onset ptosis and proximal weakness
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Chao, Chi-Chao; SUNG-TSANG HSIEH; Hwu, Wuh-Liang; Yang, Chih-Chao; Huang, Pei-Hsin; Cheng, Chang-Yu; Chang, Kai-Chieh; Hsueh, Hsueh-Wen; Lee, Ni-Chung; Cheng, Chang-Yu;Chang, Kai-Chieh;Hsueh, Hsueh-Wen;Lee, Ni-Chung;Huang, Pei-Hsin;Yang, Chih-Chao;Hwu, Wuh-Liang;Sung-Tsang Hsieh;Chao, Chi-Chao |
| 國立交通大學 |
2020-07-01T05:22:08Z |
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile -onset Pompe disease: Evidence from real -world experiences
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Chien, Yin-Hsiu; Tsai, Wen-Hui; Chang, Chaw-Liang; Chiu, Pao-Chin; Chou, Yen-Yin; Tsai, Fuu-Jen; Wong, Siew-Lee; Lee, Ni-Chung; Hwu, Wuh-Liang |
| 臺大學術典藏 |
2020-05-04T08:08:31Z |
Long-term follow-up results in patients with classic infantile Pompe disease receiving enzyme therapy since newborn
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Chien, Yin-Hsiu;Hwu, Wuh-Liang;Lee, Ni-Chung;Chen, Chun-An;Tsai, Fuu-Jen;Tsai, Wen-Hui;Huang, Hsiang-Ju;Hsu, Wei-Chung;Tsai, Tzu-Hsun;Shieh, Jeng-Yi; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; Chen, Chun-An; Tsai, Fuu-Jen; Tsai, Wen-Hui; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Shieh, Jeng-Yi; WEI-CHUNG HSU |
| 臺大學術典藏 |
2020-05-04T08:08:29Z |
Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth
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Chien, Yin-Hsiu;Lee, Ni-Chung;Chen, Chun-An;Tsai, Fuu-Jen;Tsai, Wen-Hui;Shieh, Jeng-Yi;Huang, Hsiang-Ju;Hsu, Wei-Chung;Tsai, Tzu-Hsun;Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; Chen, Chun-An; Tsai, Fuu-Jen; Tsai, Wen-Hui; Shieh, Jeng-Yi; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Hwu, Wuh-Liang; WEI-CHUNG HSU |
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