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机构 日期 题名 作者
臺大學術典藏 2022-07-15T10:33:46Z Corneal opacity and congenital glaucoma associated with massive heparan sulfaturia: report of one case Lin, S C; FUNG-RONG HU; Hou, J W; Yao, Y T; Wang, T R; Hung, P T
臺大學術典藏 2022-03-10T07:58:52Z Molecular genetic study of Pompe disease in Chinese patients in Taiwan Ko T.-M.; Hwu W.-L.; Lin Y.-W.; LI-HUI TSENG; Hwa H.-L.; Wang T.-R.; Chuang S.-M.
臺大學術典藏 2022-03-10T07:58:52Z Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384)) Ko T.-M.; Hwu W.-L.; Lin Y.-W.; LI-HUI TSENG; Hwa H.-L.; Wang T.-R.; Chuang S.- M.; Hayashi K.
臺大學術典藏 2022-03-09T06:48:39Z Camptomelic dysplasia: report of one case Tsao, P. N.; Teng, R. J.; WUH-LIANG ​​HWU; Tsou Yau, K. I.; Wang, T. R.
臺大學術典藏 2022-03-09T06:20:21Z Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of an X-Y homologous region Tsai, C. H.; Tsai, F. J.; WUH-LIANG ​​HWU; Wang, T. R.; Shu, S. G.; Liu, S. C.
臺大學術典藏 2021-08-23T01:36:01Z High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease Chuang L.-M.; HUEY-PEIR WU; Jang M.-H.; Wang T.-R.; Sue W.-C.; Lin B.J.; Cox D.W.; Tai T.-Y.
臺大學術典藏 2021-07-08T03:25:54Z Bony changes in common mucopolysaccharidoses SHYH-JYE CHEN; Li, Y W; Wang, T R; Hsu, J C
臺大學術典藏 2021-06-29T08:16:07Z Kleine-Levin syndrome in a boy with Prader-Willi syndrome Gau S.-F.; Soong W.-T.; Liu H.-M.; Hou J.-W.; Tsai W.-Y.; YEN-NAN CHIU; Yeh Y.-C.; Wang P.-J.; Wang T.-R.
臺大學術典藏 2021-06-29T08:16:06Z Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L.
臺大學術典藏 2021-06-29T08:16:05Z Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU; Chou S.-P.; Wang T.-R.; Hwu W.-L.

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