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

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	Repositories
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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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	機構典藏計畫網站
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	臺大學術典藏NTU Scholars

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Institution	Date	Title	Author
臺大學術典藏	2021-07-06T02:04:07Z	Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer	Lin P.-H.;Kuo W.-H.;Huang A.-C.;Lu Y.-S.;Lin C.-H.;Kuo S.-H.;Wang M.-Y.;Liu C.-Y.;Cheng F.T.-F.;Yeh M.-H.;Li H.-Y.;Yang Y.-H.;Hsu Y.-H.;Fan S.-C.;Li L.-Y.;Yu S.-L.;Chang K.-J.;Pei-Lung Chen;Ni Y.-H.;Huang C.-S.; Lin P.-H.; Kuo W.-H.; Huang A.-C.; Lu Y.-S.; Lin C.-H.; Kuo S.-H.; Wang M.-Y.; Liu C.-Y.; Cheng F.T.-F.; Yeh M.-H.; Li H.-Y.; Yang Y.-H.; Hsu Y.-H.; Fan S.-C.; Li L.-Y.; Yu S.-L.; Chang K.-J.; PEI-LUNG CHEN; Ni Y.-H.; Huang C.-S.
臺大學術典藏	2021-06-29T08:15:50Z	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; YEN-NAN CHIU; Huang A.-C.; Chien Y.-H.; Hwu W.-L.; Chiu M.-J.
臺大學術典藏	2021-06-09T08:12:21Z	Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down Syndrome	Fang W.-Q.;Wuh-Liang Hwu;Chien Y.-H.;Yang S.-Y.;Chieh J.-J.;Chang L.-M.;Huang A.-C.;Lee N.-C.;Chiu M.-J.; Fang W.-Q.; WUH-LIANG HWU; Chien Y.-H.; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; Chiu M.-J.
臺大學術典藏	2021-06-03T06:15:37Z	Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer	PO-HAN LIN; Kuo W.-H.; Huang A.-C.; Lu Y.-S.; Lin C.-H.; Kuo S.-H.; Wang M.-Y.; Liu C.-Y.; Cheng F.T.-F.; Yeh M.-H.; Li H.-Y.; Yang Y.-H.; Hsu Y.-H.; Fan S.-C.; Li L.-Y.; Yu S.-L.; Chang K.-J.; Chen P.-L.; Ni Y.-H.; Huang C.-S.
臺大學術典藏	2021-02-23T08:26:22Z	Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer	Lin P.-H.; Kuo W.-H.; Huang A.-C.; Lu Y.-S.; Lin C.-H.; SUNG-HSIN KUO; Wang M.-Y.; Liu C.-Y.; Cheng F.T.-F.; Yeh M.-H.; Li H.-Y.; Yang Y.-H.; Hsu Y.-H.; Fan S.-C.; Li L.-Y.; Yu S.-L.; Chang K.-J.; Chen P.-L.; Ni Y.-H.; Huang C.-S.
臺大學術典藏	2021-01-06T06:51:46Z	Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening	Lee N.-C.;Tang N.L.-S.;Chien Y.-H.;Chun-An Chen;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Hwu W.-L.; Lee N.-C.; Tang N.L.-S.; Chien Y.-H.; CHUN-AN CHEN; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L.
臺大學術典藏	2021-01-05T08:07:22Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; MEI-HWAN WU; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:07Z	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Chen Y.-T.; Tsai F.-J.; Huang P.-H.; Wu M.-H.; Huang A.-C.; Chen C.-A.; Lee N.-C.; Keutzer J.; Zhang X.K.; Chiang S.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:00Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Wu M.-H.; Huang A.-C.; Keutzer J.; Zhang X.K.; Thurberg B.L.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:58Z	Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening	Huang A.-C.; Hwu W.-L.; Chiu P.-C.; Lin S.-J.; Chen C.-A.; YIN-HSIU CHIEN; Tang N.L.-S.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:51Z	Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer	Chang K.-J.; Hwu W.-L.; Hsieh F.-J.; Cheng A.-L.; Lin C.-H.; Sargeant A.M.; Bai L.-Y.; Lu Y.-S.; Liu T.-P.; YIN-HSIU CHIEN; Kuo W.-H.; Lin P.-H.; Huang A.-C.
臺大學術典藏	2020-12-24T06:16:32Z	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Chiu M.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Huang A.-C.; Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; Chiu Y.-N.
臺大學術典藏	2020-12-24T06:16:16Z	Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down Syndrome	Fang W.-Q.; Hwu W.-L.; YIN-HSIU CHIEN; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; Chiu M.-J.
臺大學術典藏	2020-12-16T02:26:17Z	Neonatal screening and monitoring system in Taiwan.	Wuh-Liang Hwu;Huang A.C.;Chen J.S.;Hsiao K.J.;Tsai W.Y.; WUH-LIANG HWU; Huang A.C.; Chen J.S.; Hsiao K.J.; Tsai W.Y.
臺大學術典藏	2020-12-16T02:26:02Z	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.;Tsai L.K.;Huang A.C.;Peng S.F.;Chen S.J.;Wuh-Liang Hwu; Chien Y.H.; Lee N.C.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:58Z	Early detection of glutaric aciduria type I by newborn screening in Taiwan	Hsieh C.-T.;Wuh-Liang Hwu;Huang Y.-T.;Huang A.-C.;Wang S.-F.;Hu M.-H.;Chien Y.-H.; Hsieh C.-T.; WUH-LIANG HWU; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:56Z	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Lee N.-C.;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:54Z	Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia	Lee N.-C.;Chien Y.-H.;Peng S.-F.;Huang A.-C.;Liu T.-T.;Wu A.S.-H.;Chen L.-C.;Hsu L.-W.;Tseng S.-C.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:50Z	Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)	Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.;Chiang S.-C.;Dobrovolny R.;Huang A.-C.;Yeh H.-Y.;Chao M.-C.;Lin S.-J.;Kitagawa T.;Desnick R.J.;Hsu L.-W.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W.
臺大學術典藏	2020-12-16T02:25:49Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:46Z	Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening	Lee N.-C.;Tang N.L.-S.;Chien Y.-H.;Chen C.-A.;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Wuh-Liang Hwu; Lee N.-C.; Tang N.L.-S.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:38Z	Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer	Kuo W.-H.; Lin P.-H.; Huang A.-C.; Chien Y.-H.; Liu T.-P.; Lu Y.-S.; Bai L.-Y.; Sargeant A.M.; Lin C.-H.; Cheng A.-L.; Hsieh F.-J.; WUH-LIANG HWU; Chang K.-J.
臺大學術典藏	2020-12-16T02:25:32Z	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.; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; WUH-LIANG HWU
臺大學術典藏	2020-12-09T01:38:42Z	Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.	Chien Y.H.;Ni-Chung Lee;Tsai L.K.;Huang A.C.;Peng S.F.;Chen S.J.;Hwu W.L.; Chien Y.H.; NI-CHUNG LEE; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.
臺大學術典藏	2020-12-09T01:38:41Z	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Ni-Chung Lee;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; NI-CHUNG LEE; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.

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