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Institution Date Title Author
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
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 2022-03-09T06:18:20Z 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 2022-03-09T06:20:21Z 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 2022-03-09T06:42:54Z 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 2022-03-09T06:47:02Z 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 2022-03-09T06:48:39Z 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 2022-03-09T07:09:06Z In vitro genome editing rescues parkinsonism phenotypes in induced pluripotent stem cells-derived dopaminergic neurons carrying LRRK2 p.G2019S mutation Chang, Kuo-Hsuan; Huang, Cheng-Yen; Ou-Yang, Chih-Hsin; Ho, Chang-Han; Lin, Han-Yi; Hsu, Chia-Lang; YOU-TZUNG CHEN; Chou, Yu-Chi; Chen, Yi-Jing; Chen, Ying; Lin, Jia-Li; Wang, Ji-Kuan; Lin, Pei-Wen; Lin, Ying-Ru; Lin, Miao-Hsia; Tseng, Chi-Kang; Lin, Chin-Hsien
臺大學術典藏 2022-03-09T08:01:36Z A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan Wu M.-C.; Chang Y.-Y.; Lan M.-Y.; Chen Y.-F.; Tai C.-H.; Lin Y.-F.; Tsai S.-F.; PEI-LUNG CHEN; Lin C.-H.
臺大學術典藏 2022-03-09T08:01:37Z Cochlear implantation in LEOPARD syndrome: Our experience with three patients Wu P.-C.; Tsai C.-Y.; Lin P.-H.; Chou P.-H.; Huang F.-L.; PEI-LUNG CHEN; Shiao J.-Y.; Liu T.-C.; Hsu C.-J.; Huang C.-W.; Wu C.-C.

Showing items 2263571-2263580 of 2348794  (234880 Page(s) Totally)
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