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

關於TAIR
	計畫說明

瀏覽
	典藏機構
	作者
	題名
	日期
	統計圖表
	機構即時統計
	學術趨勢

消息
	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

著作權
	出版社及期刊政策查詢
	TAIR著作權會議記錄

相關連結
	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"的相關文件

回到依作者瀏覽
依題名排序	依日期排序

顯示項目 86-110 / 458 (共19頁)
<< < 1 2 3 4 5 6 7 8 9 10 > >>
每頁顯示[10|25|50]項目

機構	日期	題名	作者
臺大學術典藏	2020-12-16T02:26:24Z	Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation	Wuh-Liang Hwu;Wang P.-J.;Hsiao K.-J.;Wang T.-R.;Chiou Y.-W.;Lee Y.-M.; WUH-LIANG HWU; Wang P.-J.; Hsiao K.-J.; Wang T.-R.; Chiou Y.-W.; Lee Y.-M.
臺大學術典藏	2020-12-16T02:26:24Z	Neonatal type of nonketotic hyperglycinemia	Lu F.L.;Wang P.-J.;Wuh-Liang Hwu;Tsou Yau K.-I.;Wang T.-R.; Lu F.L.; Wang P.-J.; WUH-LIANG HWU; Tsou Yau K.-I.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:23Z	Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation	Wuh-Liang Hwu;Suzuki Y.;Yang X.;Li X.;Chou S.-P.;Narisawa K.;Tsai W.-Y.; WUH-LIANG HWU; Suzuki Y.; Yang X.; Li X.; Chou S.-P.; Narisawa K.; Tsai W.-Y.
臺大學術典藏	2020-12-16T02:26:23Z	Carnitine transport defect presenting with hyperammonemia: Report of one case	Wuh-Liang Hwu;Chiang S.-C.;Chang M.-H.;Wang T.-R.; WUH-LIANG HWU; Chiang S.-C.; Chang M.-H.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:23Z	Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations	Wuh-Liang Hwu;Chiang S.-C.;Huang S.-F.;Chang M.-H.;Wen W.-H.;Wang T.-R.; WUH-LIANG HWU; Chiang S.-C.; Huang S.-F.; Chang M.-H.; Wen W.-H.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:23Z	Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia	Chiang S.-C.;Lee Y.-M.;Chang M.-H.;Wang T.-R.;Ko T.-M.;Wuh-Liang Hwu; Chiang S.-C.; Lee Y.-M.; Chang M.-H.; Wang T.-R.; Ko T.-M.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:22Z	Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one case	Yang T.-Y.;Chen H.-L.;Ni Y.-H.;Wuh-Liang Hwu;Chang M.-H.; Yang T.-Y.; Chen H.-L.; Ni Y.-H.; WUH-LIANG HWU; Chang M.-H.
臺大學術典藏	2020-12-16T02:26:22Z	Metabolic disorders mimicking Reye's syndrome	Chang P.-F.;Huang S.-F.;Wuh-Liang Hwu;Hou J.-W.;Ni Y.-H.;Chang M.-H.; Chang P.-F.; Huang S.-F.; WUH-LIANG HWU; Hou J.-W.; Ni Y.-H.; Chang M.-H.
臺大學術典藏	2020-12-16T02:26:22Z	Congenital contractural arachnodactyly (Beals syndrome)	Su P.-H.;Hou J.-W.;Wuh-Liang Hwu;Wu M.-H.;Wang J.-K.;Wang T.-R.; Su P.-H.; Hou J.-W.; WUH-LIANG HWU; Wu M.-H.; Wang J.-K.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:22Z	Identification and characterization of -3c-g acceptor splice site mutation in human α-L-iduronidase associated with mucopolysaccharidosis type IH/S	Teng Y.N.;Wang T.R.;Wuh-Liang Hwu;Lin S.P.;Lee-Chen G.J.; Teng Y.N.; Wang T.R.; WUH-LIANG HWU; Lin S.P.; Lee-Chen G.J.
臺大學術典藏	2020-12-16T02:26:22Z	Dopa-responsive dystonia is induced by a dominant-negative mechanism	Wuh-Liang Hwu;Chiou Y.-W.;Lai S.-Y.;Lee Y.-M.; WUH-LIANG HWU; Chiou Y.-W.; Lai S.-Y.; Lee Y.-M.
臺大學術典藏	2020-12-16T02:26:21Z	MRI in a case of adult-onset citrullinemia	Chen Y.-F.;Huang Y.-C.;Liu H.-M.;Wuh-Liang Hwu; Chen Y.-F.; Huang Y.-C.; Liu H.-M.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:21Z	A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene.	Wuh-Liang Hwu;Kobayashi K.;Hu Y.H.;Yamaguchi N.;Saheki T.;Chou S.P.;Wang J.H.; WUH-LIANG HWU; Kobayashi K.; Hu Y.H.; Yamaguchi N.; Saheki T.; Chou S.P.; Wang J.H.
臺大學術典藏	2020-12-16T02:26:21Z	Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency	Binzak B.A.;Wevers R.A.;Moolenaar S.H.;Lee Y.-M.;Wuh-Liang Hwu;Poggi-Bach J.;Engelke U.F.H.;Hoard H.M.;Vockley J.G.;Vockley J.; Binzak B.A.; Wevers R.A.; Moolenaar S.H.; Lee Y.-M.; WUH-LIANG HWU; Poggi-Bach J.; Engelke U.F.H.; Hoard H.M.; Vockley J.G.; Vockley J.
臺大學術典藏	2020-12-16T02:26:21Z	Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies	Wang P.-J.;Wuh-Liang Hwu;Shen Y.-Z.; Wang P.-J.; WUH-LIANG HWU; Shen Y.-Z.
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.

顯示項目 86-110 / 458 (共19頁)
<< < 1 2 3 4 5 6 7 8 9 10 > >>
每頁顯示[10|25|50]項目

	English \| 正體中文 \| 简体中文 \| 總筆數 :0
	造訪人次 : 50694464 線上人數 : 232 教育部委託研究計畫計畫執行:國立臺灣大學圖書館