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

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

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機構	日期	題名	作者
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.
臺大學術典藏	2021-06-09T08:12:22Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Wu E.-T.;Wuh-Liang Hwu;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Chou H.-C.;Tsao P.-N.;Fan P.-C.;Tsai I.-J.;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; Wu E.-T.; WUH-LIANG HWU; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
臺大學術典藏	2021-06-09T08:12:21Z	Children Conceived by Assisted Reproductive Technology Prone to Low Birth Weight, Preterm Birth, and Birth Defects: A Cohort Review of More Than 50,000 Live Births During 2011–2017 in Taiwan	Chang H.-Y.;Wuh-Liang Hwu;Chen C.-H.;Hou C.-Y.;Cheng W.; Chang H.-Y.; WUH-LIANG HWU; Chen C.-H.; Hou C.-Y.; Cheng W.
臺大學術典藏	2021-06-09T08:12:21Z	Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down Syndrome	Fang W.-Q.;Wuh-Liang Hwu;Chien Y.-H.;Yang S.-Y.;Chieh J.-J.;Chang L.-M.;Huang A.-C.;Lee N.-C.;Chiu M.-J.; Fang W.-Q.; WUH-LIANG HWU; Chien Y.-H.; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; Chiu M.-J.
臺大學術典藏	2021-06-09T08:12:20Z	Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort	Chen S.-J.;Lee B.-C.;Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu;Lin C.-H.; Chen S.-J.; Lee B.-C.; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU; Lin C.-H.
臺大學術典藏	2021-06-09T08:12:19Z	Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma	Weng H.-L.;Yang F.-J.;Chien Y.-H.;Chen P.-R.;Lin Z.-X.;Lee N.-C.;Wuh-Liang Hwu; Weng H.-L.; Yang F.-J.; Chien Y.-H.; Chen P.-R.; Lin Z.-X.; Lee N.-C.; WUH-LIANG HWU

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