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Institution Date Title Author
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 2022-05-14T23:35:54Z Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome Ou, Tsung Ying; Tsai, Meng Che; Kuo, Pao Lin; NI-CHUNG LEE; Chou, Yen Yin
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 2022-04-14T23:27:42Z A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations Lin, I. Ting; NI-CHUNG LEE; Fan, Sung Pin; Huang, Chang Jin; Cheng, Po Wei; JYH-HORNG CHEN; CHIN-HSIEN LIN
臺大學術典藏 2022-03-10T06:22:49Z Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening NI-CHUNG LEE; Chang, Kai-Ling; In 't Groen, Stijn L M; de Faria, Douglas O S; Huang, Hsiang-Ju; Pijnappel, W W M Pim; Hwu, Wuh-Liang; Chien, Yin-Hsiu
臺大學術典藏 2022-03-10T06:14:07Z 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; NI-CHUNG LEE; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Tung, Yi-Ching
臺大學術典藏 2022-03-10T06:09:56Z UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis Liao, Chun-Hua; NI-CHUNG LEE; Jou, Shiann-Tarng; Chiang, Bor-Luen; Yu, Hsin-Hui
臺大學術典藏 2022-03-10T05:58:53Z Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation Su, Tzu-Hsuan; NI-CHUNG LEE; Wu, Chao-Szu; Peng, Steven Shinn-Forng; Fan, Pi-Chuan
臺大學術典藏 2022-03-10T05:40:48Z Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity Li, Jeng-Lin; NI-CHUNG LEE; Chen, Pin-Shiuan; Lee, Gin Hoong; Wu, Ruey-Meei

Showing items 1-10 of 226  (23 Page(s) Totally)
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