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

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

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Showing items 36-45 of 90 (9 Page(s) Totally)
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Institution	Date	Title	Author
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
臺大學術典藏	2020-12-16T02:26:12Z	Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case	Wuh-Liang Hwu;Kuo P.-L.;Hung Y.-T.;Chien Y.-H.;Chu S.-Y.; WUH-LIANG HWU; Kuo P.-L.; Hung Y.-T.; Chien Y.-H.; Chu S.-Y.
臺大學術典藏	2020-12-16T02:26:11Z	Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review	Chu S.-Y.;Tsai W.-Y.;Chien Y.-H.;Fang J.-S.;Ku C.-W.;Chang P.-Y.;Wuh-Liang Hwu; Chu S.-Y.; Tsai W.-Y.; Chien Y.-H.; Fang J.-S.; Ku C.-W.; Chang P.-Y.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:08Z	Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype	Tzeng C.-C.;Tsai L.-P.;Wuh-Liang Hwu;Lin S.-J.;Chao M.-C.;Jong Y.-J.;Chu S.-Y.;Chao W.-C.;Lu C.-L.; Tzeng C.-C.; Tsai L.-P.; WUH-LIANG HWU; Lin S.-J.; Chao M.-C.; Jong Y.-J.; Chu S.-Y.; Chao W.-C.; Lu C.-L.
臺大學術典藏	2020-12-16T02:25:32Z	Can a girl with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency live a normal life?	Tsai T.-Y.;Weng C.-Y.;Lin H.-M.;Lai P.-C.;Chou S.-P.;Wuh-Liang Hwu;Chu S.-Y.; Tsai T.-Y.; Weng C.-Y.; Lin H.-M.; Lai P.-C.; Chou S.-P.; WUH-LIANG HWU; Chu S.-Y.
臺大學術典藏	2020-12-16T02:25:19Z	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	Chien Y.-H.; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
臺大學術典藏	2020-12-16T02:25:09Z	Congenital generalized lipodystrophy in Taiwan	Hsu R.-H.;Lin W.-D.;Chao M.-C.;Hsiao H.-P.;Wong S.-L.;Chiu P.-C.;Chu S.-Y.;Ke Y.-Y.;Lau B.-H.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Wang C.-H.;Lee N.-C.; Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Wang C.-H.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:01Z	Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan	Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Wuh-Liang Hwu;Lee N.-C.;Chien Y.-H.;Chuang C.-K.;Wu M.-H.;Wang J.-K.;Chu S.-Y.;Lin J.-L.;Lo F.-S.;Su P.-H.;Hsu C.-C.;Ko Y.-Y.;Chen M.-R.;Chiu H.-C.;Lin S.-P.; Lee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; WUH-LIANG HWU; Lee N.-C.; Chien Y.-H.; Chuang C.-K.; Wu M.-H.; Wang J.-K.; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:00Z	Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns	Chien Y.-H.;Lee N.-C.;Chen P.-W.;Yeh H.-Y.;Gelb M.H.;Chiu P.-C.;Chu S.-Y.;Lee C.-H.;Lee A.-R.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:24:59Z	Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant	Chu S.-Y.;Chien C.-C.;Wuh-Liang Hwu;Wang P.-J.;Chien Y.-H.; Chu S.-Y.; Chien C.-C.; WUH-LIANG HWU; Wang P.-J.; Chien Y.-H.

Showing items 36-45 of 90 (9 Page(s) Totally)
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