| 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 |
