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

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	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

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	臺大學術典藏NTU Scholars

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Institution	Date	Title	Author
臺大學術典藏	2022-02-18T08:09:25Z	新生兒篩檢	WUH-LIANG HWU; Y. H. Chien; N. C. Lee
臺大學術典藏	2022-02-18T08:09:25Z	臺灣遺傳檢驗與咨詢施行之現況分析與倫理反省	Fu-Chang Tsai; Chin-Ning Chang; Chih-Chao Yang; WUH-LIANG HWU
臺大學術典藏	2022-02-18T08:09:25Z	大規模人口遺傳疾病篩檢之倫理議題與國家政策	Fu-Chang Tsai; Lo-Yun Chung; Yin-Hsiu Chien; WUH-LIANG HWU
臺大學術典藏	2022-02-18T08:09:25Z	臺灣一位Hurler型多醣儲積症（MPS IH）患者的IDUA基因突變分析及記述	Yen-Ni Teng; Guey-Jen Lee-Chen; Tso-Ren Wang; WUH-LIANG HWU
臺大學術典藏	2022-02-18T08:09:24Z	一般兒科訓練	WUH-LIANG HWU; Mei-Hwan Wu
臺大學術典藏	2022-02-18T08:09:24Z	Russell-Silver Syndrome與印記基因關連性探討	李美慧; WUH-LIANG HWU; 呂旭峰; 陳明
臺大學術典藏	2022-02-18T08:09:24Z	魏火曜兒科研究基金會教育課程－病例簡報－骨髓移植在Maroteux-Lamy症候群的應用	林文騰; 周獻堂; WUH-LIANG HWU; 林凱信; 王作仁
臺大學術典藏	2022-02-18T08:09:24Z	漢丁頓症之基因分析	Shu-Chuan Chiang; WUH-LIANG HWU
臺大學術典藏	2022-02-18T08:09:23Z	遺傳因素造成胎兒在子宮內生長遲緩之要因與結果分析	呂旭峰; WUH-LIANG HWU; 李美慧
臺大學術典藏	2022-02-18T08:09:23Z	魏火曜兒科研究基金會繼續教育病例簡報－新生兒早衰症	陳潔蓮; 章志平; WUH-LIANG HWU
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.
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.

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