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机构 日期 题名 作者
臺大學術典藏 2020-12-16T02:26:26Z Human α-L-iduronidase (IDUA) gene: Apparent recombination in intron 2 by haplotype analysis in a Taiwanese population Lee-Chen G.-J.; Wang T.-R.; WUH-LIANG HWU; Day K.-R.; Wang C.-K.
臺大學術典藏 2020-12-16T02:26:26Z Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan Su P.-H.; WUH-LIANG HWU; Chiang S.-C.; Chiu P.-C.; Lin S.-J.; Shu S.-G.; Wang T.-R.
臺大學術典藏 2020-12-16T02:26:26Z Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease Wang P.-J.;Wuh-Liang Hwu;Lee W.-T.;Wang T.-R.;Shen Y.-Z.; Wang P.-J.; WUH-LIANG HWU; Lee W.-T.; Wang T.-R.; Shen Y.-Z.
臺大學術典藏 2020-12-16T02:26:26Z Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene Wong L.-J.C.; Liang M.-H.; WUH-LIANG HWU; Lam C.-W.
臺大學術典藏 2020-12-16T02:26:25Z Allele distribution at the FMR1 locus in the general Chinese population Chiang S.-C.;Lee Y.-M.;Wang T.-R.;Wuh-Liang Hwu; Chiang S.-C.; Lee Y.-M.; Wang T.-R.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:25Z Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation Hsu Y.-S.;Wuh-Liang Hwu;Huang S.-F.;Lu M.-Y.;Chen R.-L.;Lin D.-T.;Peng S.S.F.;Lin K.-H.; Hsu Y.-S.; WUH-LIANG HWU; Huang S.-F.; Lu M.-Y.; Chen R.-L.; Lin D.-T.; Peng S.S.F.; Lin K.-H.
臺大學術典藏 2020-12-16T02:26:25Z Findings of high-resolution chest computed tomography in a young child with Type C Niemann-Pick disease Peng S.S.-F.; Li Y.-W.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:26:25Z Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome Tsai F.-J.; WUH-LIANG HWU; Lin S.-P.; Chang J.-G.; Wang T.-R.; Tsai C.-H.
臺大學術典藏 2020-12-16T02:26:25Z Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384)) Ko T.-M.;Wuh-Liang Hwu;Lin Y.-W.;Tseng L.-H.;Hwa H.-L.;Wang T.-R.;Chuang S.- M.;Hayashi K.; Ko T.-M.; WUH-LIANG HWU; Lin Y.-W.; Tseng L.-H.; Hwa H.-L.; Wang T.-R.; Chuang S.- M.; Hayashi K.
臺大學術典藏 2020-12-16T02:26:24Z 3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: Report of one case Lee C.;Tsai F.-J.;Wu J.-Y.;Peng C.-T.;Tsai C.-H.;Wuh-Liang Hwu;Wang T.-R.;Millington D.S.; Lee C.; Tsai F.-J.; Wu J.-Y.; Peng C.-T.; Tsai C.-H.; WUH-LIANG HWU; Wang T.-R.; Millington D.S.

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