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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Institution Date Title Author
臺大學術典藏 2022-07-12T01:43:19Z High prevalence of lower urinary tract dysfunction in patients with Prader–Willi syndrome Chao T.-C.; Yang S.S.D.; SHANG-JEN CHANG; Tsai L.-P.
臺大學術典藏 2022-07-12T01:43:07Z Elevated postvoid residual urine volume predicting recurrence of urinary tract infections in toilet-trained children SHANG-JEN CHANG; Tsai L.-P.; Hsu C.-K.; Yang S.S.
臺大學術典藏 2021-01-27T06:53:36Z Firing activity of locus coeruleus noradrenergic neurons decreases in necdin-deficient mice, an animal model of Prader-Willi syndrome Wu, R.-N.;Hung, W.-C.;Chen, C.-T.;Tsai, L.-P.;Lai, W.-S.;Min, M.-Y.;Wong, S.-B.; Wu, R.-N.; Hung, W.-C.; Chen, C.-T.; Tsai, L.-P.; Lai, W.-S.; Min, M.-Y.; Wong, S.-B.; WEN-SUNG LAI
臺大學術典藏 2021-01-27T03:23:37Z Firing activity of locus coeruleus noradrenergic neurons decreases in necdin-deficient mice, an animal model of Prader-Willi syndrome Wu, R.-N.;Hung, W.-C.;Chen, C.-T.;Tsai, L.-P.;Lai, W.-S.;Min, M.-Y.;Wong, S.-B.; Wu, R.-N.; Hung, W.-C.; Chen, C.-T.; Tsai, L.-P.; Lai, W.-S.; Min, M.-Y.; Wong, S.-B.; WEN-SUNG LAI
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.
國立成功大學 2021 Epigenotype, genotype, and phenotype analysis of taiwanese patients with silver–russell syndrome Lin, H.-Y.;Lee, C.-L.;Fran, S.;Tu, R.-Y.;Chang, Y.-H.;Niu, D.-M.;Chang, Chang C.-Y.;Chiu, P.-C.;Chou, Y.-Y.;Hsiao, Hsiao H.-P.;Tsai, M.-C.;Chao, M.-C.;Tsai, L.-P.;Yang, C.-F.;Su, P.-H.;Pan, Y.-W.;Lee, C.-H.;Chu, T.-H.;Chuang, Chuang C.-K.;Lin, S.-P.
臺大學術典藏 2020-12-29T08:15:37Z Firing activity of locus coeruleus noradrenergic neurons decreases in necdin-deficient mice, an animal model of Prader-Willi syndrome Wu, R.-N.;Hung, W.-C.;Chen, C.-T.;Tsai, L.-P.;Lai, W.-S.;Min, M.-Y.;Wong, S.-B.; Wu, R.-N.; Hung, W.-C.; Chen, C.-T.; Tsai, L.-P.; Lai, W.-S.; Min, M.-Y.; Wong, S.-B.; MING-YUAN MIN
臺大學術典藏 2020-12-24T06:16:37Z Incidence of severe combined immunodeficiency through newborn screening in a Chinese population Yu H.-H.; Chang K.-L.; Chiang S.-C.; YIN-HSIU CHIEN; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:27Z Functional independence of Taiwanese children with Prader–Willi syndrome Chuang C.-K.; Tsai F.-J.; Chou Y.-Y.; Chao M.-C.; Lee N.-C.; Niu D.-M.; YIN-HSIU CHIEN; Huang Y.-H.; Tu R.-Y.; Chiu H.-C.; Tsai L.-P.; Lin H.-Y.; Lee C.-L.; Lin S.-P.
臺大學術典藏 2020-12-24T03:22:35Z A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; EN-TING WU; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏 2020-12-21T08:19:31Z A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child Hwu W.-L.; I-JUNG TSAI; Lee W.-T.; Wu E.-T.; Huang P.-H.; Peng S.-F.; Weng W.-C.; Wu J.-F.; Chien Y.-H.; Tsai L.-P.; Liu H.-M.; Lee N.-C.
臺大學術典藏 2020-12-21T01:08:41Z A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child Weng W.-C.; JIA-FENG WU; Chien Y.-H.; Liu H.-M.; Tsai L.-P.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏 2020-12-18T02:21:47Z A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; WANG-TSO LEE; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏 2020-12-17T02:28:33Z Incidence of severe combined immunodeficiency through newborn screening in a Chinese population Chien Y.-H.;Chiang S.-C.;Chang K.-L.;Hsin-Hui Yu;Lee W.-I.;Tsai L.-P.;Hsu L.-W.;Hu M.-H.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Chang K.-L.; HSIN-HUI YU; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; Hwu W.-L.
臺大學術典藏 2020-12-16T02:26:29Z 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)) Wuh-Liang Hwu;Chuang S.-C.;Tsai L.-P.;Chang M.-H.;Chang S.-M.;Wang T.-R.; WUH-LIANG HWU; Chuang S.-C.; Tsai L.-P.; Chang M.-H.; Chang S.-M.; Wang T.-R.
臺大學術典藏 2020-12-16T02:26:28Z Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia Wuh-Liang Hwu;Chuang S.-C.;Tsai L.-P.;Chang M.-H.;Chuang S.-M.;Wang T.-R.; WUH-LIANG HWU; Chuang S.-C.; Tsai L.-P.; Chang M.-H.; Chuang S.-M.; Wang T.-R.
臺大學術典藏 2020-12-16T02:26:28Z Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la Wuh-Liang Hwu;Chuang S.-C.;Tsai L.-P.;Chang M.-H.;Chuang S.-M.;Wang T.-R.; WUH-LIANG HWU; Chuang S.-C.; Tsai L.-P.; Chang M.-H.; Chuang S.-M.; Wang T.-R.
臺大學術典藏 2020-12-16T02:26:27Z Arylsulfatase A pseudodeficiency in Chinese Wuh-Liang Hwu;Tsai L.-P.;Wang W.-C.;Chuang S.-C.;Wang P.-J.;Wang T.-R.; WUH-LIANG HWU; Tsai L.-P.; Wang W.-C.; Chuang S.-C.; Wang P.-J.; Wang T.-R.
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 2020-12-16T02:25:51Z Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004 Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU; Lin J.-L.
臺大學術典藏 2020-12-16T02:25:34Z A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏 2020-12-16T02:25:24Z Incidence of severe combined immunodeficiency through newborn screening in a Chinese population Chang K.-L.; Chiang S.-C.; Chien Y.-H.; Yu H.-H.; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; WUH-LIANG HWU
臺大學術典藏 2020-12-09T01:38:44Z Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism Niu D.M.;Hwang B.;Tiu C.M.;Tsai L.P.;Yen J.L.;Ni-Chung Lee;Lin C.-Y.; Niu D.M.; Hwang B.; Tiu C.M.; Tsai L.P.; Yen J.L.; NI-CHUNG LEE; Lin C.-Y.

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