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

About TAIR
	About TAIR

Browse By
	Institution
	Author
	Title
	Date
	Statistics Chart
	Institution Facts
	Trend

News
	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

Copyright
	Publisher & Journal Policy
	TAIR Copyright Conference Minutes

Related Links
	機構典藏計畫網站
	ROAR
	OpenDOAR
	SHERPA
	OAIster
	JAIRO
	Ira
	DSPACE
	RWWR
	臺大學術典藏NTU Scholars

"wuh liang hwu"

Return to Browse by Author
Sorting by Title	Sort by Date

Showing items 201-225 of 458 (19 Page(s) Totally)
<< < 4 5 6 7 8 9 10 11 12 13 > >>
View [10|25|50] records per page

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)
<< < 4 5 6 7 8 9 10 11 12 13 > >>
View [10|25|50] records per page

	English \| 正體中文 \| 简体中文 \| Total items :0
	Visitors : 50692065 Online Users : 251 Project Commissioned by the Ministry of Education Project Executed by National Taiwan University Library