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机构 日期 题名 作者
臺大學術典藏 2021-06-11T02:56:22Z Trisomy 18 in a patient with CHARGE association. WANG-TSO LEE; Hou J.W.; Yau K.I.; Wang T.R.
臺大學術典藏 2021-06-11T02:54:15Z Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease Wang P.-J.; Hwu W.-L.; WANG-TSO LEE; Wang T.-R.; Shen Y.-Z.
臺大學術典藏 2021-06-11T02:54:15Z Cytochrome C oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy WANG-TSO LEE; Wang P.-J.; Young C.; Wang T.-R.; Shen Y.-Z.
臺大學術典藏 2021-05-26T03:36:28Z Common variable immunodeficiency: An immunological study Tsai K.S.; Chuang C.Y.; Hsieh K.H.; Wang T.R.; KWEN-TAY LUH; Hsu H.C.
臺大學術典藏 2021-05-18T05:54:27Z Author Correction: Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders (Scientific Reports, (2020), 10, 1, (8278), 10.1038/s41598-020-65211-w) Tai C.-H.; Pan M.-K.; SHENG-HONG TSENG; Wang T.-R.; Kuo C.-C.
臺大學術典藏 2021-05-18T05:54:27Z Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders Tai C.-H.;Pan M.-K.;Sheng-Hong Tseng;Wang T.-R.;Kuo C.-C.; Tai C.-H.; Pan M.-K.; SHENG-HONG TSENG; Wang T.-R.; Kuo C.-C.
臺大學術典藏 2021-03-10T08:56:26Z Common variable immunodeficiency: An immunological study Keh-Sung Tsai;Chuang C.Y.;Hsieh K.H.;Wang T.R.;Luh K.T.;Hsu H.C.; KEH-SUNG TSAI; Chuang C.Y.; Hsieh K.H.; Wang T.R.; Luh K.T.; Hsu H.C.
臺大學術典藏 2021-01-08T02:16:47Z Homocystinuria presenting as fatal common carotid artery occlusion Chiu H.-H.; Wang T.-R.; Wang P.-J.; Hou J.-W.; CHUN-YI LU; Chun-Yi Lu;Hou J.-W.;Wang P.-J.;Chiu H.-H.;Wang T.-R.
臺大學術典藏 2021-01-06T05:51:04Z Microdeletion of chromosomal region 22q11 in DiGeorge syndrome: report of a case. Hou J.W.; Hou J.W.;Jou-Kou Wang;Chou C.C.;Wang T.R.; JOU-KOU WANG; Chou C.C.; Wang T.R.
臺大學術典藏 2021-01-06T05:51:00Z Microdeletion of chromosomal region 7q11.23 in Willias syndrome Hou J.-W.;Jou-Kou Wang;Wang T.-R.; Hou J.-W.; JOU-KOU WANG; Wang T.-R.
臺大學術典藏 2021-01-06T05:51:00Z CATCH 22: Deletion of locus 22Q11 in velocardiofacial syndrome, digeorge anomaly, and nonsyndromic conotruncal defects Hou J.-W.; JOU-KOU WANG; Tsai W.-Y.; Chou C.-C.; Wang T.-R.
臺大學術典藏 2021-01-06T05:50:54Z Congenital contractural arachnodactyly (Beals syndrome) Su P.-H.;Hou J.-W.;Hwu W.-L.;Wu M.-H.;Jou-Kou Wang;Wang T.-R.; Su P.-H.; Hou J.-W.; Hwu W.-L.; Wu M.-H.; JOU-KOU WANG; Wang T.-R.
臺大學術典藏 2021-01-05T08:07:57Z Congenital contractural arachnodactyly (Beals syndrome) Su P.-H.;Hou J.-W.;Hwu W.-L.;Mei-Hwan Wu;Wang J.-K.;Wang T.-R.; Su P.-H.; Hou J.-W.; Hwu W.-L.; MEI-HWAN WU; Wang J.-K.; Wang T.-R.
臺大學術典藏 2021-01-04T07:41:22Z Neonatal hepatitis: A follow-up study MEI-HWEI CHANG; Hsu H.C.; Lee C.Y.; Wang T.R.; Kao C.L.
臺大學術典藏 2021-01-04T07:41:21Z Neonatal hepatitis: A follow-up study MEI-HWEI CHANG; Hsu H.-C.; Lee C.-Y.; Wang T.-R.; Kao C.-L.
臺大學術典藏 2021-01-04T07:41:14Z Wilson disease presenting as fulminant hepatic failure, acute hemolytic anemia and renal failure: report of one case Hsu H.C.; Wang T.R.; Hsu Y.H.; MEI-HWEI CHANG; Tseng C.L.;Tsai S.L.;Lin K.H.;Mei-Hwei Chang;Wang T.R.;Hsu Y.H.;Hsu H.C.; Tseng C.L.; Tsai S.L.; Lin K.H.
臺大學術典藏 2021-01-04T07:38:59Z Corrigendum: Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia (Human Molecular Genetics (1995) 4 (1095-1096)) MEI-HWEI CHANG; Chang S.-M.; Wang T.-R.; Hwu W.-L.;Chuang S.-C.;Tsai L.-P.;Mei-Hwei Chang;Chang S.-M.;Wang T.-R.; Hwu W.-L.; Chuang S.-C.; Tsai L.-P.
臺大學術典藏 2021-01-04T07:38:56Z Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia Hwu W.-L.;Chuang S.-C.;Tsai L.-P.;Mei-Hwei Chang;Chuang S.-M.;Wang T.-R.; Hwu W.-L.; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG; Chuang S.-M.; Wang T.-R.
臺大學術典藏 2021-01-04T07:38:56Z Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la Hwu W.-L.;Chuang S.-C.;Tsai L.-P.;Mei-Hwei Chang;Chuang S.-M.;Wang T.-R.; Hwu W.-L.; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG; Chuang S.-M.; Wang T.-R.
臺大學術典藏 2021-01-04T07:38:55Z Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome. Tsai S.Y.;Jeng Y.M.;Hwu W.L.;Ni Y.H.;Mei-Hwei Chang;Wang T.R.; Tsai S.Y.; Jeng Y.M.; Hwu W.L.; Ni Y.H.; MEI-HWEI CHANG; Wang T.R.
臺大學術典藏 2021-01-04T07:38:43Z Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia Chiang S.-C.;Lee Y.-M.;Mei-Hwei Chang;Wang T.-R.;Ko T.-M.;Hwu W.-L.; Chiang S.-C.; Lee Y.-M.; MEI-HWEI CHANG; Wang T.-R.; Ko T.-M.; Hwu W.-L.
臺大學術典藏 2021-01-04T07:38:43Z Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations Hwu W.-L.;Chiang S.-C.;Huang S.-F.;Mei-Hwei Chang;Wen W.-H.;Wang T.-R.; Hwu W.-L.; Chiang S.-C.; Huang S.-F.; MEI-HWEI CHANG; Wen W.-H.; Wang T.-R.
臺大學術典藏 2021-01-04T07:38:42Z Carnitine transport defect presenting with hyperammonemia: Report of one case Hwu W.-L.;Chiang S.-C.;Mei-Hwei Chang;Wang T.-R.; Hwu W.-L.; Chiang S.-C.; MEI-HWEI CHANG; Wang T.-R.
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

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