| 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. |
