臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

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	臺大學術典藏NTU Scholars

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Showing items 26-50 of 512 (21 Page(s) Totally)
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Institution	Date	Title	Author
臺大學術典藏	2022-03-04T03:48:03Z	Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios	Lin S.-Y.; Chuang G.-T.; Hung C.-H.; WEI-CHOU LIN; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:23Z	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.; WUH-LIANG HWU; Lee C.-N.; Tsai I.-J.; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:22Z	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.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:22Z	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.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:22Z	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.; WUH-LIANG HWU; Lee N.-C.; Lin C.-Y.; Chien Y.-H.
臺大學術典藏	2022-02-18T06:49:21Z	Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience	Cho C.-Y.; Tsai W.-Y.; Lee C.-T.; Liu S.-Y.; Huang S.-Y.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.; Tung Y.-C.
臺大學術典藏	2022-02-18T06:49:21Z	Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy	Chen C.-L.; Lee C.-N.; Chien Y.-H.; WUH-LIANG HWU; Chang T.-M.; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:20Z	Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency	Tai C.-H.; Lee N.-C.; Chien Y.-H.; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; WUH-LIANG HWU
臺大學術典藏	2022-02-15T06:22:51Z	Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy	Lin C.-H.; Tsai P.-.; Lin H.-Y.; Hattori N.; Funayama M.; Jeon B.; Sato K.; Abe K.; Mukai Y.; Takahashi Y.; Li Y.; Nishioka K.; Yoshino H.; Daida K.; Chen M.-L.; Cheng J.; Huang C.-Y.; Tzeng S.-R.; Wu Y.-S.; Lai H.-J.; Tsai H.-H.; Yen R.-F.; Lee N.-C.; Lo W.-C.; Hung Y.-C.; CHIH-CHIANG CHAN; Ke Y.-C.; Chao C.-C.; Hsieh S.-T.; Farrer M.; Wu R.-M.
臺大學術典藏	2022-02-14T07:10:50Z	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.; YUNG-MING JENG; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C.
臺大學術典藏	2022-02-14T07:10:46Z	A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan	Kuo Y.-C.; Hsueh H.-W.; Hsueh S.-J.; Lee N.-C.; Hsieh M.-J.; Chao C.-C.; Chien Y.-H.; PEI-HSIN HUANG; Yang C.-C.
臺大學術典藏	2022-02-14T07:10:45Z	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.; Lee N.-C.; PEI-HSIN HUANG; Yang C.-C.
臺大學術典藏	2022-01-25T03:25:02Z	REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample	Lee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; Chien Y.-H.; CHI-LING CHEN; Hwu W.-L.; Lee P.-L.
臺大學術典藏	2021-11-30T03:30:59Z	Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28	Chen P.-S.; Lee N.-C.; Fan S.-P.; CHUN-HWEI TAI; Huang C.-J.; Huang W.-H.; Jeng P.-W.; Chen J.-H.; Lin C.-H.
臺大學術典藏	2021-11-26T05:56:52Z	Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.	Chien Y.H.; Lee N.C.; LI-KAI TSAI; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.
臺大學術典藏	2021-11-26T05:56:47Z	Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C	Chien Y.H.; Peng S.F.; Yang C.C.; Lee N.C.; LI-KAI TSAI; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L.
臺大學術典藏	2021-11-26T05:56:40Z	Hypothermia improves disease manifestations in SMA mice via SMN augmentation	LI-KAI TSAI; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; Chien Y.-H.; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2021-11-26T05:56:32Z	A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice	Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI; Chien Y.-H.
臺大學術典藏	2021-11-26T05:56:29Z	Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency	Ho S.-Y.; Chien Y.-H.; LI-KAI TSAI; Muramatsu S.-I.; Hwu W.-L.; Liou H.-H.; Lee N.-C.
臺大學術典藏	2021-11-26T05:56:27Z	Clinical features of Pompe disease with motor neuronopathy	LI-KAI TSAI; Hwu W.-L.; Lee N.-C.; Huang P.-H.; Chien Y.-H.
臺大學術典藏	2021-11-26T05:56:19Z	Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice	Lee N.-C.; Peng W.-H.; LI-KAI TSAI; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; Hwu W.-L.; Tseng W.-Y.I.; Chien Y.-H.
臺大學術典藏	2021-11-16T02:44:01Z	Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy	CHIN-HSIEN LIN; Tsai P.-.; Lin H.-Y.; Hattori N.; Funayama M.; Jeon B.; Sato K.; Abe K.; Mukai Y.; Takahashi Y.; Li Y.; Nishioka K.; Yoshino H.; Daida K.; Chen M.-L.; Cheng J.; Huang C.-Y.; Tzeng S.-R.; Wu Y.-S.; Lai H.-J.; Tsai H.-H.; Yen R.-F.; Lee N.-C.; Lo W.-C.; Hung Y.-C.; Chan C.-C.; Ke Y.-C.; Chao C.-C.; Hsieh S.-T.; Farrer M.; Wu R.-M.
臺大學術典藏	2021-11-16T02:43:56Z	Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28	Chen P.-S.; Lee N.-C.; Fan S.-P.; Tai C.-H.; Huang C.-J.; Huang W.-H.; Jeng P.-W.; Chen J.-H.; CHIN-HSIEN LIN
臺大學術典藏	2021-11-11T08:48:21Z	A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan	Kuo Y.-C.; HSUEH-WEN HSUEH; Hsueh S.-J.; Lee N.-C.; Hsieh M.-J.; Chao C.-C.; Chien Y.-H.; Huang P.-H.; Yang C.-C.
臺大學術典藏	2021-11-11T08:48:20Z	Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome	Fan S.-P.; HSUEH-WEN HSUEH; Huang H.-C.; Chang K.; Lee N.-C.; Huang P.-H.; Yang C.-C.

Showing items 26-50 of 512 (21 Page(s) Totally)
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