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

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Showing items 16-25 of 458 (46 Page(s) Totally)
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Institution	Date	Title	Author
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.
臺大學術典藏	2022-02-18T06:49:21Z	Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy	Chen C.-L.; Lee C.-N.; Chien Y.-H.; WUH-LIANG HWU; Chang T.-M.; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:20Z	Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency	Tai C.-H.; Lee N.-C.; Chien Y.-H.; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; WUH-LIANG HWU
臺大學術典藏	2021-07-14T03:36:13Z	The Ethics and Guidelines of Next-Generation Sequencing Genetic Testing and Counseling	DANIEL FU-CHANG TSAI; Yu-Chen Juang; Yin-Hsiu Chien; Ni-Chung Lee; Hung Chih-Yu Wang; Shuan-Pei Lin; Wuh-Liang Hwu
臺大學術典藏	2021-06-09T08:12:23Z	Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study	Whyte M.P.;Leung E.;Wilcox W.R.;Liese J.;Argente J.;Martos-Moreno G.?.;Reeves A.;Fujita K.P.;Moseley S.;Hofmann C.;Beck M.;Dimeglio L.;Wuh-Liang Hwu;Simm P.;Simmons J.;Steelman J.;Steiner R.D.;Superti-Furga A.;Study 011-10 Investigators; Whyte M.P.; Leung E.; Wilcox W.R.; Liese J.; Argente J.; Martos-Moreno G.?.; Reeves A.; Fujita K.P.; Moseley S.; Hofmann C.; Beck M.; DiMeglio L.; WUH-LIANG HWU; Simm P.; Simmons J.; Steelman J.; Steiner R.D.; Superti-Furga A.; Study 011-10 Investigators
臺大學術典藏	2021-06-09T08:12:22Z	Diversity in heritable disorders of connective tissue at a single center	Hsu R.-H.;Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.; Hsu R.-H.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.

Showing items 16-25 of 458 (46 Page(s) Totally)
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