English  |  正體中文  |  简体中文  |  总笔数 :0  
造访人次 :  52948027    在线人数 :  942
教育部委托研究计画      计画执行:国立台湾大学图书馆
 
臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
关于TAIR

浏览

消息

著作权

相关连结

"yin hsiu chien"的相关文件

回到依作者浏览
依题名排序 依日期排序

显示项目 106-130 / 345 (共14页)
<< < 1 2 3 4 5 6 7 8 9 10 > >>
每页显示[10|25|50]项目

机构 日期 题名 作者
臺大學術典藏 2020-12-24T06:17:01Z Newborn screening system based on adaptive feature selection and support vector machines Cheng P.-H.; Lai F.; Hsieh S.-L.; Chen P.-H.; Chen W.-H.; Shen C.-P.; YIN-HSIU CHIEN; Hsieh S.-H.
臺大學術典藏 2020-12-24T06:17:01Z X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males Chen S.-T.; Chen H.-L.; Ni Y.-H.; YIN-HSIU CHIEN; Jeng Y.-M.; Chang M.-H.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:17:00Z Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan Lin S.-J.; Pan H.-P.; Tsai F.-J.; Ke Y.-Y.; Lin D.-S.; YIN-HSIU CHIEN; Chen C.-P.; Chuang C.-K.; Chen M.-R.; Lin H.-Y.; Hwu W.-L.; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏 2020-12-24T06:17:00Z Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan Kao S.-M.; Hwu W.-L.; Ho H.-C.; Chiang C.-C.; Niu D.-M.; YIN-HSIU CHIEN; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J.
臺大學術典藏 2020-12-24T06:17:00Z Pompe disease in infants: Improving the prognosis by newborn screening and early treatment Wu M.-H.; Huang A.-C.; Keutzer J.; Zhang X.K.; Thurberg B.L.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:59Z Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program Hwu W.-L.; Scholl T.; Labrousse P.; YIN-HSIU CHIEN; Pomponio R.J.; Keutzer J.; Lee N.-C.; Akmaev V.R.
臺大學術典藏 2020-12-24T06:16:59Z CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency Chang K.-L.; Hwu W.-L.; Yeh H.-Y.; Lee N.-C.; YIN-HSIU CHIEN
臺大學術典藏 2020-12-24T06:16:58Z Newborn screening for neuropathic lysosomal storage disorders Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:58Z Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening Huang A.-C.; Hwu W.-L.; Chiu P.-C.; Lin S.-J.; Chen C.-A.; YIN-HSIU CHIEN; Tang N.L.-S.; Lee N.-C.
臺大學術典藏 2020-12-24T06:16:58Z Newborn screening healthcare information system based on service-oriented architecture Lai F.; Wang Z.; Tu C.-M.; Hsieh S.-H.; Hsieh S.-L.; YIN-HSIU CHIEN; Weng Y.-C.; Hsu K.-P.; Chen C.-H.
臺大學術典藏 2020-12-24T06:16:58Z Clinical aspects and genetic analysis of Taiwanese patients with Wiskott-Aldrich syndrome protein mutation: The first identification of X-linked thrombocytopenia in the Chinese with novel mutations Chang K.-W.; YIN-HSIU CHIEN; Wu K.-H.; Jaing T.-H.; Huang J.-L.; Lee W.-I.
臺大學術典藏 2020-12-24T06:16:57Z Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry YIN-HSIU CHIEN; De Jesus V.R.; Orsini J.J.; Keutzer J.; Dajnoki A.; Fekete G.; Hwu W.-L.; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O.
臺大學術典藏 2020-12-24T06:16:57Z Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease YIN-HSIU CHIEN; Lee N.-C.; Tsai F.-J.; Chao M.-C.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:57Z Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints Ke Y.-Y.; Wang T.-J.; Lee D.-J.; Ma G.-C.; Lee N.-C.; Chen M.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:57Z Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia Schulze A.; Faghfoury H.; Korman S.H.; Hwu W.-L.; Santamar?a E.; YIN-HSIU CHIEN; Fern?ndez-Irigoyen J.; Hoganson G.E.; Stabler S.P.; Allen R.H.; Wagner C.; Mudd S.H.; Corrales F.J.
臺大學術典藏 2020-12-24T06:16:56Z Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening Huang H.-J.; Lee N.-C.; YIN-HSIU CHIEN; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:56Z Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease Chiang S.-C.; Zhang X.K.; Olivova P.; YIN-HSIU CHIEN; Lee N.-C.; Keutzer J.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:56Z Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapy Hwu W.-L.; Schreiner C.; Baum R.; YIN-HSIU CHIEN; Raben N.; Ralston E.; Zaal K.J.M.; Plotz P.H.
臺大學術典藏 2020-12-24T06:16:56Z Congenital hypopituitarism due to POU1F1 gene mutation Lee N.-C.; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:54Z SLC25A13 gene mutations in Taiwanese patients with non-viralhepatocellular carcinoma Yeh C.-T.; Chen T.-C.; YIN-HSIU CHIEN; Chen H.-L.; Chang K.-W.
臺大學術典藏 2020-12-24T06:16:53Z A reliable password-based user authentication scheme for web-based human genome database system Hwu W.-L.; Lai F.; YIN-HSIU CHIEN; Wu Z.-Y.; Chen W.-H.
臺大學術典藏 2020-12-24T06:16:53Z Rapid progressive course of later-onset Pompe disease in Chinese patients Hwu W.-L.; Jong Y.-J.; Chen S.-S.; Kuo Y.-T.; Lin S.-P.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Yang C.-C.
臺大學術典藏 2020-12-24T06:16:52Z 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. YIN-HSIU CHIEN; Lee N.C.; Chiang S.C.; Desnick R.J.; Hwu W.L.
臺大學術典藏 2020-12-24T06:16:52Z Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system Chang M.-H.; Chen H.-L.; Chang C.-C.; YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.; Ni Y.-H.; Su Y.-N.; Chen S.-T.
臺大學術典藏 2020-12-24T06:16:52Z Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; YIN-HSIU CHIEN; Stone L.; Chien C.-L.; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C.

显示项目 106-130 / 345 (共14页)
<< < 1 2 3 4 5 6 7 8 9 10 > >>
每页显示[10|25|50]项目