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

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Institution	Date	Title	Author
臺大學術典藏	2020-12-24T06:16:37Z	Incidence of severe combined immunodeficiency through newborn screening in a Chinese population	Yu H.-H.; Chang K.-L.; Chiang S.-C.; YIN-HSIU CHIEN; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:37Z	X-linked hyper-IgM syndrome with CD40LG mutation: Two case reports and literature review in Taiwanese patients	Tsai H.-Y.; Yu H.-H.; YIN-HSIU CHIEN; Chu K.-H.; Lau Y.-L.; Lee J.-H.; Wang L.-C.; Chiang B.-L.; Yang Y.-H.
臺大學術典藏	2020-12-24T06:16:36Z	Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes	Raymond K.; Okano Y.; Muntau A.; Mayatepek E.; Lindner M.; Lykopoulou L.; Levy H.; Lachmann R.; Korman S.H.; Kim S.; YIN-HSIU CHIEN; Abdenur J.E.; Baronio F.; Bannick A.A.; Corrales F.; Couce M.; Donner M.G.; Ficicioglu C.; Freehauf C.; Frithiof D.; Gotway G.; Hirabayashi K.; Hofstede F.; Hoganson G.; Hwu W.-L.; James P.; Rubio-Gozalbo E.; Scholl-B?rgi S.; Schulze A.; Singh R.; Stabler S.; Stuy M.; Thomas J.; Wagner C.; Wilson W.G.; Wortmann S.; Yamamoto S.; Pao M.; Blom H.J.
臺大學術典藏	2020-12-24T06:16:36Z	Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation	Lee P.-L.; Lu C.-J.; Wang T.-J.; Chu S.-Y.; Lin S.-J.; Hsiue H.-C.; Lee N.-C.; Tsai H.-B.; Yang C.-C.; Wu C.-S.; Lee W.-T.; Weng W.-C.; Fan P.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Hung K.-L.; Huang C.-C.; Chen C.-H.
臺大學術典藏	2020-12-24T06:16:36Z	Congenital malformations in newborns - A challenge unmet for decades	Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:35Z	Advances in newborn screening for Pompe disease and resulting clinical outcomes	YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:34Z	Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme	YIN-HSIU CHIEN; Tsai W.-H.; Tsai F.-J.; Lee N.-C.; Hwu W.-L.; Peng S.S.-F.
臺大學術典藏	2020-12-24T06:16:34Z	Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography	Hsiao K.-J.; Lee N.-C.; Chou Y.-Y.; YIN-HSIU CHIEN; Fan Y.-L.; Niu D.-M.; Liu T.-T.; Liu Y.-N.; Chiu Y.-H.
臺大學術典藏	2020-12-24T06:16:33Z	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	YIN-HSIU CHIEN; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
臺大學術典藏	2020-12-24T06:16:32Z	Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease	Hwu W.-L.; YIN-HSIU CHIEN; Wen M.-S.; Song I.-W.; Chang C.-P.; Wang N.H.-H.; Chiang H.-L.; Tsai F.-J.; Chen Y.-T.; Wu J.-Y.

Showing items 161-170 of 345 (35 Page(s) Totally)
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View [10|25|50] records per page