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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Showing items 371-380 of 770 (77 Page(s) Totally)
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Institution	Date	Title	Author
臺大學術典藏	2020-12-09T01:38:34Z	Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening	Chien Y.-H.;Ni-Chung Lee;Huang H.-J.;Thurberg B.L.;Tsai F.-J.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:34Z	Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease	Zhang X.K.; Chiang S.-C.; NI-CHUNG LEE; Keutzer J.; Hwu W.-L.; Chien Y.-H.;Olivova P.;Zhang X.K.;Chiang S.-C.;Ni-Chung Lee;Keutzer J.;Hwu W.-L.; Chien Y.-H.; Olivova P.
臺大學術典藏	2020-12-09T01:38:34Z	Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease	Chien Y.-H.;Ni-Chung Lee;Tsai F.-J.;Chao M.-C.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Tsai F.-J.; Chao M.-C.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:34Z	Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints	Ni-Chung Lee;Chen M.;Ma G.-C.;Lee D.-J.;Wang T.-J.;Ke Y.-Y.;Chien Y.-H.;Hwu W.-L.; NI-CHUNG LEE; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:33Z	Rapid progressive course of later-onset Pompe disease in Chinese patients	Yang C.-C.;Chien Y.-H.;Ni-Chung Lee;Chiang S.-C.;Lin S.-P.;Kuo Y.-T.;Chen S.-S.;Jong Y.-J.;Hwu W.-L.; Yang C.-C.; Chien Y.-H.; NI-CHUNG LEE; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:33Z	Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy	Chen C.-A.;Chien Y.-H.;Hwu W.-L.;Ni-Chung Lee;Wang J.-K.;Chen L.-R.;Lu C.-W.;Lin M.-T.;Chiu S.-N.;Chiu H.-H.;Wu M.-H.; Chen C.-A.; Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; Chiu S.-N.; Chiu H.-H.; Wu M.-H.
臺大學術典藏	2020-12-09T01:38:33Z	Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia	Wei S.-H.;Weng W.-C.;Ni-Chung Lee;Hwu W.-L.;Lee W.-T.; Wei S.-H.; Weng W.-C.; NI-CHUNG LEE; Hwu W.-L.; Lee W.-T.
臺大學術典藏	2020-12-09T01:38:33Z	Congenital hypopituitarism due to POU1F1 gene mutation	Ni-Chung Lee;Tsai W.-Y.;Peng S.-F.;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.; NI-CHUNG LEE; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:32Z	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation	Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.; Chen Y.-T.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:32Z	Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.	Chien Y.H.; NI-CHUNG LEE; Chiang S.C.; Desnick R.J.; Hwu W.L.

Showing items 371-380 of 770 (77 Page(s) Totally)
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View [10|25|50] records per page