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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	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	2020-12-16T02:25:55Z	Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review	Yen T.-Y.;Wuh-Liang Hwu;Chien Y.-H.;Wu M.-H.;Lin M.-T.;Tsao L.-Y.;Hsieh W.-S.;Lee N.-C.; Yen T.-Y.; WUH-LIANG HWU; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:54Z	Myopathy in Gaucher disease	Tsai L.-K.;Chien Y.-H.;Yang C.-C.;Wuh-Liang Hwu; Tsai L.-K.; Chien Y.-H.; Yang C.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:54Z	Web Services based newborn screening system with Support Vector Machines	Hsieh S.-H.;Hsieh S.-L.;Weng Y.-C.;Chien Y.-H.;Wang Z.;Chen P.-H.;Chang H.-Y.;Lai F.;Wuh-Liang Hwu; Hsieh S.-H.; Hsieh S.-L.; Weng Y.-C.; Chien Y.-H.; Wang Z.; Chen P.-H.; Chang H.-Y.; Lai F.; 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	2020-12-16T02:25:54Z	Screening for pompe disease and fabry disease	Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:53Z	Eye anomalies and neurological manifestations in patients with PAX6 mutations.	Lee N.C.; Chang T.C.; Chien Y.H.; WUH-LIANG HWU; Chien Y.H.; Huang H.P.
臺大學術典藏	2020-12-16T02:25:53Z	Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation	Lee N.-C.;Dimmock D.;Wuh-Liang Hwu;Tang L.-Y.;Huang W.-C.;Chinault A.C.;Wong L.-J.C.; Lee N.-C.; Dimmock D.; WUH-LIANG HWU; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C.
臺大學術典藏	2020-12-16T02:25:53Z	Fibrous dysplasia in a child with mitochondrial A8344G mutation	Chen S.-T.;Fan P.-C.;Wuh-Liang Hwu;Wu M.-H.; Chen S.-T.; Fan P.-C.; WUH-LIANG HWU; Wu M.-H.
臺大學術典藏	2020-12-16T02:25:53Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Chen L.-R.; Chen C.-A.; Chiu S.-N.; Chien Y.-H.; Lee N.-C.; Lin M.-T.; WUH-LIANG HWU; Wang J.-K.; Wu M.-H.
臺大學術典藏	2020-12-16T02:25:52Z	Hyperammonemia and positive allopurinol test in hyperinsulinism- hyperammonemia syndrome: Taiwanese case report	Lin L.-C.; WUH-LIANG HWU; Yang R.-C.
臺大學術典藏	2020-12-16T02:25:52Z	Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy	Tsai L.-K.; Yang C.-C.; Ting C.-H.; Su Y.-N.; WUH-LIANG HWU; Li H.
臺大學術典藏	2020-12-16T02:25:52Z	Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.	Chien Y.H.;Wuh-Liang Hwu; Chien Y.H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:52Z	Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment	Lu Y.-C.; Chen P.-J.; Liu A.Y.-Z.; WUH-LIANG HWU; Hsu C.-J.; Wu C.-C.
臺大學術典藏	2020-12-16T02:25:52Z	Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia	Lee N.-C.;Marshall J.D.;Collin G.B.;Naggert J.K.;Chien Y.-H.;Tsai W.-Y.;Wuh-Liang Hwu; Lee N.-C.; Marshall J.D.; Collin G.B.; Naggert J.K.; Chien Y.-H.; Tsai W.-Y.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:51Z	Schizencephaly in LEOPARD Syndrome	Liang J.-S.; Chien Y.-H.; WUH-LIANG HWU; Yeh S.-J.; Peng S.-F.
臺大學術典藏	2020-12-16T02:25:51Z	Glycogen Storage Disease Type Ib: The First Case in Taiwan	Hsiao H.-J.;Chang H.-H.;Wuh-Liang Hwu;Lam C.-W.;Lee N.-C.;Chien Y.-H.; Hsiao H.-J.; Chang H.-H.; WUH-LIANG HWU; Lam C.-W.; Lee N.-C.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:51Z	Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome	Chiang P.-W.;Lee N.-C.;Chien N.;Wuh-Liang Hwu;Spector E.;Tsai A.C.-H.; Chiang P.-W.; Lee N.-C.; Chien N.; WUH-LIANG HWU; Spector E.; Tsai A.C.-H.
臺大學術典藏	2020-12-16T02:25:51Z	Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004	Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU; Lin J.-L.
臺大學術典藏	2020-12-16T02:25:50Z	X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males	Chen S.-T.; Chen H.-L.; Ni Y.-H.; Chien Y.-H.; Jeng Y.-M.; Chang M.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:50Z	Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti	Lee N.C.; Huang C.H.; WUH-LIANG HWU; Chien Y.H.; Chang Y.Y.; Chen C.H.; Ko T.M.
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	2020-12-16T02:25:50Z	A longitudinal study of Taiwanese Sialidosis type 1: An insight into the concept of cherry-red spot myoclonus syndrome	Lai S.-C.; Chen R.-S.; Wu Chou Y.-H.; Chang H.-C.; Kao L.-Y.; Huang Y.-Z.; Weng Y.-H.; Chen J.-K.; WUH-LIANG HWU; Lu C.-S.
臺大學術典藏	2020-12-16T02:25:50Z	Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies	Kraus J.P.; Ha?ek J.; Ko?ich V.; Collard R.; Venezia S.; Jano??kov? B.; Wang J.; Stabler S.P.; Allen R.H.; Jakobs C.; Finn C.T.; Chien Y.-H.; WUH-LIANG HWU; Hegele R.A.; Mudd S.H.
臺大學術典藏	2020-12-16T02:25:49Z	Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: Molecular delineation by multicolor banding	Lee N.-C.; Chang S.-P.; Chang C.-S.; Chen C.-H.; Lee D.-J.; Lin C.-C.; WUH-LIANG HWU; Ming C.
臺大學術典藏	2020-12-16T02:25:49Z	Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study	Wraith J.E.; Guffon N.; Rohrbach M.; WUH-LIANG HWU; Korenke G.C.; Bembi B.; Luzy C.; Giorgino R.; Sedel F.

Showing items 201-225 of 458 (19 Page(s) Totally)
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