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 71-80 of 226 (23 Page(s) Totally)
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Institution	Date	Title	Author
臺大學術典藏	2020-12-09T01:38:39Z	Screening for pompe disease and fabry disease	Hwu W.-L.;Chien Y.-H.;Ni-Chung Lee; Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:39Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Chen C.-A.; Chiu S.-N.; Chien Y.-H.; NI-CHUNG LEE; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H.; Chen L.-R.;Chen C.-A.;Chiu S.-N.;Chien Y.-H.;Ni-Chung Lee;Lin M.-T.;Hwu W.-L.;Wang J.-K.;Wu M.-H.; Chen L.-R.
臺大學術典藏	2020-12-09T01:38:38Z	Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome	Chiang P.-W.; NI-CHUNG LEE; Chien N.; Hwu W.-L.; Spector E.; Tsai A.C.-H.
臺大學術典藏	2020-12-09T01:38:38Z	Glycogen Storage Disease Type Ib: The First Case in Taiwan	Hsiao H.-J.; Chang H.-H.; Hwu W.-L.; Lam C.-W.; NI-CHUNG LEE; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:38Z	Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR	Hung C.-C.;Lin S.-Y.;Lin S.-P.;Niu D.-M.;Ni-Chung Lee;Cheng W.-F.;Chen C.-P.;Lin W.-L.;Lee C.-N.;Su Y.-N.; Hung C.-C.; Lin S.-Y.; Lin S.-P.; Niu D.-M.; NI-CHUNG LEE; Cheng W.-F.; Chen C.-P.; Lin W.-L.; Lee C.-N.; Su Y.-N.
臺大學術典藏	2020-12-09T01:38:38Z	Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia	NI-CHUNG LEE; Marshall J.D.; Collin G.B.; Naggert J.K.; Chien Y.-H.; Tsai W.-Y.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:37Z	Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: Molecular delineation by multicolor banding	Ni-Chung Lee;Chang S.-P.;Chang C.-S.;Chen C.-H.;Lee D.-J.;Lin C.-C.;Hwu W.-L.;Ming C.; NI-CHUNG LEE; Chang S.-P.; Chang C.-S.; Chen C.-H.; Lee D.-J.; Lin C.-C.; Hwu W.-L.; Ming C.
臺大學術典藏	2020-12-09T01:38:37Z	Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti	Ni-Chung Lee;Huang C.H.;Hwu W.L.;Chien Y.H.;Chang Y.Y.;Chen C.H.;Ko T.M.; NI-CHUNG LEE; Huang C.H.; Hwu W.L.; Chien Y.H.; Chang Y.Y.; Chen C.H.; Ko T.M.
臺大學術典藏	2020-12-09T01:38:37Z	Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)	Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W.
臺大學術典藏	2020-12-09T01:38:36Z	CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency	Chang K.-L.;Hwu W.-L.;Yeh H.-Y.;Ni-Chung Lee;Chien Y.-H.; Chang K.-L.; Hwu W.-L.; Yeh H.-Y.; NI-CHUNG LEE; Chien Y.-H.

Showing items 71-80 of 226 (23 Page(s) Totally)
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