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Showing items 156-180 of 770 (31 Page(s) Totally)
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Institution	Date	Title	Author
臺大學術典藏	2020-12-28T08:14:46Z	Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants	YEN-HSUAN NI; Hwu W.-L.; Chang M.-H.; Yeh J.-N.;Jeng Y.-M.;Chen H.-L.;Yen-Hsuan Ni;Hwu W.-L.;Chang M.-H.; Yeh J.-N.; Jeng Y.-M.; Chen H.-L.
臺大學術典藏	2020-12-28T08:14:40Z	Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency	Chang M.-H.; Chiu P.-C.; Huang Y.-T.; Hwu W.-L.; Chien Y.-H.; Lee N.-C.; Chen H.-W.; Chen H.-L.; YEN-HSUAN NI; Chen H.-W.;Chen H.-L.;Yen-Hsuan Ni;Lee N.-C.;Chien Y.-H.;Hwu W.-L.;Huang Y.-T.;Chiu P.-C.;Chang M.-H.
臺大學術典藏	2020-12-28T08:14:36Z	Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation	Hwu W.L.; Chen P.W.; Ho M.C.; Lee N.C.; Chien Y.H.; YEN-HSUAN NI; Lee P.H.
臺大學術典藏	2020-12-28T07:56:38Z	Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia	Hwu W.-L.; Chen Y.-S.; JYH-MING JIMMY JUANG; Shun C.-T.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H.
臺大學術典藏	2020-12-24T06:17:24Z	Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant	YIN-HSIU CHIEN; Chu S.-Y.; Hsu C.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:24Z	Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations	YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:23Z	Cranial MR spectroscopy of tetrahydrobiopterin deficiency	Hwu W.-L.; Wang T.-R.; Peng S.-F.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:17:23Z	Cockayne syndrome in a family	YIN-HSIU CHIEN; Chou H.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:22Z	Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan	Chu S.-Y.; Chiang S.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:22Z	Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease	Hwu W.-L.; Lai M.-Y.; YIN-HSIU CHIEN; Hsu C.-C.
臺大學術典藏	2020-12-24T06:17:21Z	Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings	Chiang B.-L.; Chou C.-C.; Hwu W.-L.; Yang Y.-H.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:17:20Z	Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing	Hwu W.-L.; YIN-HSIU CHIEN; Liang J.-S.; Lee W.-T.; Wang P.-J.; Tsai W.-Y.
臺大學術典藏	2020-12-24T06:17:20Z	Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency	Chiang S.-C.; Lin J.-M.; Chou S.-P.; Lul F.; Yeh H.-Y.; YIN-HSIU CHIEN; Huang Y.-T.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:20Z	Gene Symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency	Lin J.-M.; Chou S.-P.; Lul F.; Yeh H.-Y.; YIN-HSIU CHIEN; Huang Y.-T.; Hwu W.-L.; Chiang S.-C.
臺大學術典藏	2020-12-24T06:17:19Z	Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.	YIN-HSIU CHIEN; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; Hwu W.L.
臺大學術典藏	2020-12-24T06:17:19Z	Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan	YIN-HSIU CHIEN; Hsu C.-C.; Huang A.; Chou S.-P.; Lu F.-L.; Lee W.-T.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:18Z	Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.	YIN-HSIU CHIEN; Hwu W.L.
臺大學術典藏	2020-12-24T06:17:18Z	Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.	YIN-HSIU CHIEN; Hwu W.L.; Ariga T.
臺大學術典藏	2020-12-24T06:17:17Z	Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case	Hwu W.-L.; Kuo P.-L.; Hung Y.-T.; YIN-HSIU CHIEN; Chu S.-Y.
臺大學術典藏	2020-12-24T06:17:17Z	A step-wise diagnosis of fragile X syndrome in Taiwan	Hwu W.-L.; YIN-HSIU CHIEN; Liu C.-H.; Tzeng C.-C.; Chiang S.-C.; Huang Y.-T.
臺大學術典藏	2020-12-24T06:17:16Z	Carbohydrate deficient glycoprotein syndrome type IA	Chu K.-L.; YIN-HSIU CHIEN; Tsai C.-E.; Freeze H.H.; Eklund E.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:14Z	KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3	Lin L.-K.; YIN-HSIU CHIEN; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:14Z	Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment	YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Wang T.-R.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:14Z	Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment	Peng S.S.-F.; Tseng W.-Y.I.; YIN-HSIU CHIEN; Hwu W.-L.; Liu H.-M.
臺大學術典藏	2020-12-24T06:17:14Z	Plasma chitotriosidase activity and malaria (multiple letters)	Musumeci S.; Hwu W.-L.; YIN-HSIU CHIEN; Chen J.-H.

Showing items 156-180 of 770 (31 Page(s) Totally)
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