臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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Showing items 11-20 of 458 (46 Page(s) Totally)
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Institution	Date	Title	Author
臺大學術典藏	2022-02-18T08:09:22Z	龐培（Pompe）氏症之酵素補充治療	WUH-LIANG HWU
臺大學術典藏	2022-02-18T08:09:22Z	肝醣儲積症Ia型的診斷與治療	簡穎秀; 郭惠珍; WUH-LIANG HWU
臺大學術典藏	2022-02-18T06:49:23Z	Molecular analysis of vietnamese patients with mucopolysaccharidosis type i	Can N.T.B.; Tran D.M.; Bui T.P.; Nguyen K.N.; Nguyen H.H.; Nguyen T.V.; WUH-LIANG HWU; Tomatsu S.; Vu D.C.
臺大學術典藏	2022-02-18T06:49:23Z	Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma	Ramaswami U.; Mengel E.; Berrah A.; AlSayed M.; Broomfield A.; Donald A.; seif El Dein H.M.; Freisens S.; WUH-LIANG HWU; Peterschmitt M.J.; Yoo H.-W.; Abdelwahab M.
臺大學術典藏	2022-02-18T06:49:23Z	Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios	Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; WUH-LIANG HWU; Lee C.-N.; Tsai I.-J.; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:22Z	A novel deep intronic variant strongly associates with Alkaptonuria	Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; Chien Y.-H.; Huang Y.-H.; Lin Y.-L.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:22Z	RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients	Huang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; Chien Y.-H.; Wang Y.-T.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:22Z	A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease	Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; WUH-LIANG HWU; Lee N.-C.; Lin C.-Y.; Chien Y.-H.
臺大學術典藏	2022-02-18T06:49:21Z	Advanced therapeutic strategy for hereditary neuromuscular diseases	WUH-LIANG HWU; Muramatsu S.-I.; Chien Y.-H.; Byrne B.J.
臺大學術典藏	2022-02-18T06:49:21Z	Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience	Cho C.-Y.; Tsai W.-Y.; Lee C.-T.; Liu S.-Y.; Huang S.-Y.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.; Tung Y.-C.

Showing items 11-20 of 458 (46 Page(s) Totally)
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