| 臺大學術典藏 |
2022-05-17T06:03:52Z |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
|
NI-CHUNG LEE; YIN-HSIU CHIEN; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG; Tsai, Fuu Jen; WUH-LIANG HWU |
| 臺大學術典藏 |
2022-05-14T23:35:54Z |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
|
NI-CHUNG LEE; YIN-HSIU CHIEN; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG; Tsai, Fuu Jen; WUH-LIANG HWU |
| 臺大學術典藏 |
2022-05-14T23:35:54Z |
Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome
|
Ou, Tsung Ying; Tsai, Meng Che; Kuo, Pao Lin; NI-CHUNG LEE; Chou, Yen Yin |
| 臺大學術典藏 |
2022-05-14T23:35:27Z |
Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome
|
Lin, Han Yi; WEN-YU TSAI; YI-CHING TUNG; SHIH-YAO LIU; NI-CHUNG LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; CHENG-TING LEE |
| 臺大學術典藏 |
2022-04-14T23:27:42Z |
A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations
|
Lin, I. Ting; NI-CHUNG LEE; Fan, Sung Pin; Huang, Chang Jin; Cheng, Po Wei; JYH-HORNG CHEN; CHIN-HSIEN LIN |
| 臺大學術典藏 |
2022-03-10T06:22:49Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
|
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
|
Tsai, Meng-Ju Melody; NI-CHUNG LEE; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Tung, Yi-Ching |
| 臺大學術典藏 |
2022-03-10T06:09:56Z |
UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis
|
Liao, Chun-Hua; NI-CHUNG LEE; Jou, Shiann-Tarng; Chiang, Bor-Luen; Yu, Hsin-Hui |
| 臺大學術典藏 |
2022-03-10T05:58:53Z |
Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation
|
Su, Tzu-Hsuan; NI-CHUNG LEE; Wu, Chao-Szu; Peng, Steven Shinn-Forng; Fan, Pi-Chuan |
| 臺大學術典藏 |
2022-03-10T05:40:48Z |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity
|
Li, Jeng-Lin; NI-CHUNG LEE; Chen, Pin-Shiuan; Lee, Gin Hoong; Wu, Ruey-Meei |
| 臺大學術典藏 |
2022-03-10T05:39:33Z |
NAXE gene mutation-related progressive encephalopathy: A case report and literature review
|
Chiu, Li-Wei; Lin, Sheng-Shing; Chen, Chieh-Ho; Lin, Chien-Heng; NI-CHUNG LEE; Hong, Syuan-Yu; Chou, I-Ching; Lin, Chien-Lin; Yang, Pei-Yu |
| 臺大學術典藏 |
2022-03-10T05:38:25Z |
PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports
|
Chang, Yu-Ming; Chen, Chih-Chia; NI-CHUNG LEE; Sung, Junne-Ming; Chou, Yen-Yin; Chiou, Yuan-Yow |
| 臺大學術典藏 |
2022-03-10T03:55:04Z |
Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2
|
Hsieh P.-C.; Wu C.-C.; NI-CHUNG LEE; Hsieh J.-H.; Liao Y.-H. |
| 臺大學術典藏 |
2022-03-10T03:55:03Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
|
Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:03Z |
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
|
Lin T.-W.; Hu Y.-C.; Yang Y.-H.; Chien Y.-H.; NI-CHUNG LEE; Yu H.-H.; Chiang B.-L.; Wang L.-C. |
| 臺大學術典藏 |
2022-03-10T03:55:03Z |
Quantitative examination of early diabetes by light-emitting diodes light-induced pupillary light reflex
|
Yan Y.J.; Tsai Y.C.; Ko M.L.; NI-CHUNG LEE; Chiou J.C.; Ou-Yang M. |
| 臺大學術典藏 |
2022-03-10T03:55:02Z |
RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients
|
Huang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; Chien Y.-H.; Wang Y.-T.; Hwu W.-L.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:02Z |
Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome
|
Fan S.-P.; Hsueh H.-W.; Huang H.-C.; Chang K.; NI-CHUNG LEE; Huang P.-H.; Yang C.-C. |
| 臺大學術典藏 |
2022-03-10T03:55:02Z |
Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28
|
Chen P.-S.; NI-CHUNG LEE; Fan S.-P.; Tai C.-H.; Huang C.-J.; Huang W.-H.; Jeng P.-W.; Chen J.-H.; Lin C.-H. |
| 臺大學術典藏 |
2022-03-10T03:55:02Z |
A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease
|
Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; Hwu W.-L.; NI-CHUNG LEE; Lin C.-Y.; Chien Y.-H. |
| 臺大學術典藏 |
2022-03-10T03:55:01Z |
Impact of genetic tests on survivors of paediatric sudden cardiac arrest
|
Chiu S.-N.; Juang J.-M.J.; Tseng W.-C.; Chen W.-P.; NI-CHUNG LEE; Wu M.-H. |
| 臺大學術典藏 |
2022-03-10T03:55:01Z |
A novel deep intronic variant strongly associates with Alkaptonuria
|
Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; Chien Y.-H.; Huang Y.-H.; Lin Y.-L.; Hwu W.-L.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:01Z |
Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy
|
Chen C.-L.; Lee C.-N.; Chien Y.-H.; Hwu W.-L.; Chang T.-M.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:00Z |
Comparison of GATK and DeepVariant by trio sequencing
|
Lin Y.-L.; Chang P.-C.; Hsu C.; Hung M.-Z.; Chien Y.-H.; Hwu W.-L.; Lai F.P.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:00Z |
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
|
Tai C.-H.; NI-CHUNG LEE; Chien Y.-H.; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2022-02-14T23:55:57Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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 |
| 臺大學術典藏 |
2021-06-10T07:01:45Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
|
Cho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; NI-CHUNG LEE; Tung, Yi-Ching |
| 臺大學術典藏 |
2021-06-10T06:57:52Z |
Suboptimal trophectoderm mitochondrial DNA level is associated with delayed blastocyst development
|
Wu, Frank Shao-Ying; Weng, Shao-Ping; Shen, Meng-Shun; Ma, Pei-Chun; Wu, Po-Kuan; NI-CHUNG LEE |
| 臺大學術典藏 |
2021-05-26T03:52:07Z |
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 |
2021-03-22T03:55:46Z |
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy
|
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; Wu, Yen Sheng; Lai, Hsing Jung; Tsai, Hsin Hsi; Lo, Wen Chun; Hung, Yu Chien; Ke, Yi Ci; Farrer, Matthew; CHIN-HSIEN LIN; SHIOU-RU TZENG; RUOH-FANG YEN; NI-CHUNG LEE; CHIH-CHIANG CHAN; CHI-CHAO CHAO; SUNG-TSANG HSIEH; RUEY-MEEI WU |
| 臺大學術典藏 |
2021-03-02T14:00:29Z |
Suboptimal trophectoderm mitochondrial DNA level is associated with delayed blastocyst development
|
Wu, Frank Shao Ying; Weng, Shao Ping; Shen, Meng Shun; Ma, Pei Chun; Wu, Po Kuan; NI-CHUNG LEE |
| 臺大學術典藏 |
2021-01-18T09:12:02Z |
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 |
2020-12-10T01:24:26Z |
A case of GNE myopathy mimicking hereditary motor neuropathy
|
Huang, Y-N;Chuang, H-J;Hsueh, H-W;Huang, H-C;Ni-Chung Lee;Chao, C-C;Huang, P-H;Lee, Y-C;Lin, K-P;Yang, C-C;Hsieh, S-T; Huang, Y-N; Chuang, H-J; Hsueh, H-W; Huang, H-C; NI-CHUNG LEE; Chao, C-C; Huang, P-H; Lee, Y-C; Lin, K-P; Yang, C-C; Hsieh, S-T |
| 臺大學術典藏 |
2020-12-10T01:22:45Z |
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy with amenorrhea, subclinical optic atrophy, and electroencephalographic abnormality: A case report
|
Chang, Kai-Chieh;Kuo, Yih-Chih;Hsueh, Hsueh-Wen;Ni-Chung Lee;Yang, Chih-Chao;Hsieh, Sung-Tsang;Chao, Chi-Chao; Chang, Kai-Chieh; Kuo, Yih-Chih; Hsueh, Hsueh-Wen; NI-CHUNG LEE; Yang, Chih-Chao; Hsieh, Sung-Tsang; Chao, Chi-Chao |
| 臺大學術典藏 |
2020-12-10T01:14:55Z |
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy
|
Lin, Chin-Hsien;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;Tzeng, Shiou-Ru;Wu, Yen-Sheng;Lai, Hsing-Jung;Tsai, Hsin-Hsi;Yen, Ruoh-Fang;Ni-Chung Lee;Lo, Wen-Chun;Hung, Yu-Chien;Chan, Chih-Chiang;Ke, Yi-Ci;Chao, Chi-Chao;Hsieh, Sung-Tsang;Farrer, Matthew;Wu, Ruey-Meei; Lin, Chin-Hsien; 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; Tzeng, Shiou-Ru; Wu, Yen-Sheng; Lai, Hsing-Jung; Tsai, Hsin-Hsi; Yen, Ruoh-Fang; NI-CHUNG LEE; Lo, Wen-Chun; Hung, Yu-Chien; Chan, Chih-Chiang; Ke, Yi-Ci; Chao, Chi-Chao; Hsieh, Sung-Tsang; Farrer, Matthew; Wu, Ruey-Meei |
| 臺大學術典藏 |
2020-12-10T01:05:24Z |
Towards a reference genome that captures global genetic diversity
|
Wong, Karen H. Y.; Ma, Walfred; Wei, Chun-Yu; Yeh, Erh-Chan; Lin, Wan-Jia; Wang, Elin H. F.; Su, Jen-Ping; Hsieh, Feng-Jen; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Chow, Stephen K.; Young, Eleanor; Chu, Catherine; Poon, Annie; Yang, Chi-Fan; Lin, Dar-Shong; Hu, Yu-Feng; Wu, Jer-Yuarn; NI-CHUNG LEE; Hwu, Wuh-Liang; Boffelli, Dario; Martin, David; Xiao, Ming; Kwok, Pui-Yan |
