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

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机构	日期	题名	作者
臺大學術典藏	2020-12-16T02:26:21Z	Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan	Wong L.-J.C.;Wuh-Liang Hwu;Dai P.;Chen T.-J.; Wong L.-J.C.; WUH-LIANG HWU; Dai P.; Chen T.-J.
臺大學術典藏	2020-12-16T02:26:20Z	Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant	Chien Y.-H.;Chu S.-Y.;Hsu C.-C.;Wuh-Liang Hwu; Chien Y.-H.; Chu S.-Y.; Hsu C.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:20Z	A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.	Tang N.L.;Wuh-Liang Hwu;Chan R.T.;Law L.K.;Fung L.M.;Zhang W.M.; Tang N.L.; WUH-LIANG HWU; Chan R.T.; Law L.K.; Fung L.M.; Zhang W.M.
臺大學術典藏	2020-12-16T02:26:20Z	Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations	Chien Y.-H.;Chiang S.-C.;Huang A.;Lin J.-M.;Chiu Y.-N.;Chou S.-P.;Chu S.-Y.;Wang T.-R.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Chu S.-Y.; Wang T.-R.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:20Z	Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1]	Wu C.-H.;Wuh-Liang Hwu;Wang J.-K.;Young C.;Peng S.S.-F.;Kuo M.-F.; Wu C.-H.; WUH-LIANG HWU; Wang J.-K.; Young C.; Peng S.S.-F.; Kuo M.-F.
臺大學術典藏	2020-12-16T02:26:19Z	Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations	Wu R.-M.;Shan D.-E.;Sun C.-M.;Liu R.-S.;Wuh-Liang Hwu;Tai C.-H.;Hussey J.;West A.;Gwinn-Hardy K.;Hardy J.;Chen J.;Farrer M.;Lincoln S.; Wu R.-M.; Shan D.-E.; Sun C.-M.; Liu R.-S.; WUH-LIANG HWU; Tai C.-H.; Hussey J.; West A.; Gwinn-Hardy K.; Hardy J.; Chen J.; Farrer M.; Lincoln S.
臺大學術典藏	2020-12-16T02:26:19Z	Cockayne syndrome in a family	Chien Y.-H.;Chou H.-C.;Wuh-Liang Hwu; Chien Y.-H.; Chou H.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:19Z	Spontaneous chylothorax in a case of cardio-facio-cutaneous syndrome	Chan P.-C.;Chiu H.-C.;Wuh-Liang Hwu; Chan P.-C.; Chiu H.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:19Z	Cranial MR spectroscopy of tetrahydrobiopterin deficiency	Chien Y.-H.;Peng S.-F.;Wang T.-R.;Wuh-Liang Hwu; Chien Y.-H.; Peng S.-F.; Wang T.-R.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:18Z	An infant with heart murmur and dysmorphic face	Kuo P.-L.; WUH-LIANG HWU; Chien Y.-H.;Kuo P.-L.;Wuh-Liang Hwu; Chien Y.-H.
臺大學術典藏	2020-12-16T02:26:18Z	Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease	Hsu C.-C.;Chien Y.-H.;Lai M.-Y.;Wuh-Liang Hwu; Hsu C.-C.; Chien Y.-H.; Lai M.-Y.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:18Z	Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study	Chu S.-Y.;Tsai W.-Y.;Chen L.-H.;Wei M.-L.;Chien Y.-H.;Wuh-Liang Hwu; Chu S.-Y.; Tsai W.-Y.; Chen L.-H.; Wei M.-L.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:18Z	DiGeorge sequence with hypogammaglobulinemia: A case report	Chien Y.-H.;Yang Y.-H.;Chu S.-Y.;Wuh-Liang Hwu;Kuo P.-L.;Chiang B.-L.; Chien Y.-H.; Yang Y.-H.; Chu S.-Y.; WUH-LIANG HWU; Kuo P.-L.; Chiang B.-L.
臺大學術典藏	2020-12-16T02:26:17Z	Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings	Chien Y.-H.;Yang Y.-H.;Wuh-Liang Hwu;Chou C.-C.;Chiang B.-L.; Chien Y.-H.; Yang Y.-H.; WUH-LIANG HWU; Chou C.-C.; Chiang B.-L.
臺大學術典藏	2020-12-16T02:26:17Z	Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease	Yang C.-C.;Lai L.-W.;Whitehair O.;Wuh-Liang Hwu;Chiang S.-C.;Lien Y.-H.H.; Yang C.-C.; Lai L.-W.; Whitehair O.; WUH-LIANG HWU; Chiang S.-C.; Lien Y.-H.H.
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	2020-12-16T02:26:17Z	Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations	Kobayashi K.;Lu Y.B.;Li M.X.;Nishi I.;Hsiao K.-J.;Choeh K.;Yang Y.;Wuh-Liang Hwu;Reichardt J.K.V.;Palmieri F.;Okano Y.;Saheki T.; Kobayashi K.; Lu Y.B.; Li M.X.; Nishi I.; Hsiao K.-J.; Choeh K.; Yang Y.; WUH-LIANG HWU; Reichardt J.K.V.; Palmieri F.; Okano Y.; Saheki T.
臺大學術典藏	2020-12-16T02:26:17Z	Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan	WUH-LIANG HWU; Chien Y.-H.; Chu S.-Y.;Chiang S.-C.;Chien Y.-H.;Wuh-Liang Hwu; Chu S.-Y.; Chiang S.-C.
臺大學術典藏	2020-12-16T02:26:16Z	Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing	Wuh-Liang Hwu;Chien Y.-H.;Liang J.-S.;Lee W.-T.;Wang P.-J.;Tsai W.-Y.; WUH-LIANG HWU; Chien Y.-H.; Liang J.-S.; Lee W.-T.; Wang P.-J.; Tsai W.-Y.
臺大學術典藏	2020-12-16T02:26:16Z	Debate in newborn screening for metabolic disorders in Taiwan - A voluntary screening? Mandatory screening? Or both?	Wuh-Liang Hwu;Yu C.-L.; WUH-LIANG HWU; Yu C.-L.
臺大學術典藏	2020-12-16T02:26:16Z	Living-related liver transplantation for methylmalonic acidemia: Report of one case	Hsui J.-Y.;Chien Y.-H.;Chu S.-Y.;Lu F.L.;Chen H.-L.;Ho M.-J.;Lee P.-H.;Wuh-Liang Hwu; Hsui J.-Y.; Chien Y.-H.; Chu S.-Y.; Lu F.L.; Chen H.-L.; Ho M.-J.; Lee P.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:15Z	Gene Symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency	Wuh-Liang Hwu;Huang Y.-T.;Chien Y.-H.;Yeh H.-Y.;Lul F.;Chou S.-P.;Lin J.-M.;Chiang S.-C.; WUH-LIANG HWU; Huang Y.-T.; Chien Y.-H.; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C.
臺大學術典藏	2020-12-16T02:26:15Z	Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cells	Wuh-Liang Hwu;Yeh H.-Y.;Fang S.-W.;Chiang H.-S.;Chiou Y.-W.;Lee Y.-M.; WUH-LIANG HWU; Yeh H.-Y.; Fang S.-W.; Chiang H.-S.; Chiou Y.-W.; Lee Y.-M.
臺大學術典藏	2020-12-16T02:26:15Z	Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency	Wuh-Liang Hwu;Huang Y.-T.;Chien Y.-H.;Yeh H.-Y.;Lul F.;Chou S.-P.;Lin J.-M.;Chiang S.-C.; WUH-LIANG HWU; Huang Y.-T.; Chien Y.-H.; Yeh H.-Y.; Lul F.; Chou S.-P.; Lin J.-M.; Chiang S.-C.
臺大學術典藏	2020-12-16T02:26:15Z	Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case	Wang I.-J.;Chu S.-Y.;Wang C.-Y.;Wang P.-J.;Wuh-Liang Hwu; Wang I.-J.; Chu S.-Y.; Wang C.-Y.; Wang P.-J.; WUH-LIANG HWU

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