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机构 日期 题名 作者
臺大學術典藏 2022-05-17T06:03:52Z Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3 NI-CHUNG LEE; YIN-HSIU CHIEN; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG; Tsai, Fuu Jen; WUH-LIANG ​​HWU
臺大學術典藏 2022-05-14T23:35:54Z Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3 NI-CHUNG LEE; YIN-HSIU CHIEN; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG; Tsai, Fuu Jen; WUH-LIANG ​​HWU
臺大學術典藏 2022-05-14T23:35:27Z Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome Lin, Han Yi; WEN-YU TSAI; YI-CHING TUNG; SHIH-YAO LIU; NI-CHUNG LEE; YIN-HSIU CHIEN; WUH-LIANG ​​HWU; CHENG-TING LEE
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 2022-03-09T06:47:02Z MPS I: Mutation and Polymorphism Guey-Jen Lee-Chen; Yow-Ching Cherng; Chiou-Yen Lai; Mei-Neng Liu; WUH-LIANG ​​HWU; Tso-Ren Wang
臺大學術典藏 2022-03-09T06:42:54Z Comparison of GATK and DeepVariant by trio sequencing Lin, Yi-Lin; Chang, Pi-Chuan; Hsu, Ching; Hung, Miao-Zi; Chien, Yin-Hsiu; WUH-LIANG ​​HWU; Lai, FeiPei; Lee, Ni-Chung
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 2022-03-09T06:18:20Z Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review Tsai, Meng-Ju Melody; Lee, Ni-Chung; Chien, Yin-Hsiu; WUH-LIANG ​​HWU; Tung, Yi-Ching
臺大學術典藏 2022-03-09T06:16:15Z Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease WUH-LIANG ​​HWU; Kiening, Karl; Anselm, Irina; Compton, David R; Nakajima, Takeshi; Opladen, Thomas; Pearl, Phillip L; Roubertie, Agathe; Roujeau, Thomas; Muramatsu, Shin-Ichi
臺大學術典藏 2022-03-09T06:10:32Z Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening Lee, Ni-Chung; Chang, Kai-Ling; In 't Groen, Stijn L M; de Faria, Douglas O S; Huang, Hsiang-Ju; Pijnappel, W W M Pim; WUH-LIANG ​​HWU; Chien, Yin-Hsiu

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