公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2009 | A multi model voting enhancement for newborn screening healthcare information system | Hsieh, S.-H.; Cheng, P.-H.; Hsieh, S.-L.; Chen, P.-H.; Weng, Y.-C.; YIN-HSIU CHIEN ; Wang, Z.; FEI-PEI LAI | Studies in Computational Intelligence | 0 | 0 | |
2012 | Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer | WEN-HUNG KUO ; PO-HAN LIN ; Huang A.-C.; YIN-HSIU CHIEN ; Liu T.-P.; YEN-SHEN LU ; Bai L.-Y.; Sargeant A.M.; CHING-HUNG LIN ; ANN-LII CHENG ; FON-JOU HSIEH ; WUH-LIANG HWU ; KING-JEN CHANG | Journal of Human Genetics | 19 | 19 | |
2004 | Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. | YIN-HSIU CHIEN ; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; WUH-LIANG HWU | Human mutation | 33 | 0 | |
2019 | Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency | HSIN-HUI YU ; Hu T.-C.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; YAO-HSU YANG ; WUH-LIANG HWU ; BOR-LUEN CHIANG | Journal of Microbiology, Immunology and Infection | 5 | 4 | |
2008 | Myopathy in Gaucher disease | LI-KAI TSAI ; YIN-HSIU CHIEN ; Yang C.-C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 3 | 0 | |
2013 | Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease | YIN-HSIU CHIEN ; DER-SHENG HAN ; WUH-LIANG HWU ; Thurberg B.L.; WEI-SHIUNG YANG | PLoS ONE | 15 | 14 | |
2010 | Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan | Niu D.-M.; YIN-HSIU CHIEN ; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU ; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J. | Journal of Inherited Metabolic Disease | 130 | 111 | |
2018 | Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Li M.-H. | JIMD Reports | 30 | 31 | |
2002 | Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study | Chu S.-Y.; WEN-YU TSAI ; Chen L.-H.; Wei M.-L.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Journal of the Formosan Medical Association | 18 | 14 | |
2000 | Nephrotic syndrome in a bone marrow transplant recipient without chronic graft-versus-host disease | YIN-HSIU CHIEN ; KAI-HSIN LIN ; Lee T.-Y.; MENG-YAO LU ; YONG-KWEI TSAU | Journal of the Formosan Medical Association | 28 | 24 | |
2018 | A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice | NI-CHUNG LEE ; WUH-LIANG HWU ; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI ; YIN-HSIU CHIEN | Molecular Neurobiology | 24 | 27 | |
2013 | Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests | Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN | BMC Medical Genetics | 26 | 24 | |
2010 | Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry | Dajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O. | Clinica Chimica Acta | 47 | 41 | |
2009 | Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) | WUH-LIANG HWU ; YIN-HSIU CHIEN ; 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. | Human Mutation | 287 | 257 | |
2020 | Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; WUH-LIANG HWU | Orphanet Journal of Rare Diseases | 38 | 38 | |
2010 | Newborn screening for neuropathic lysosomal storage disorders | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE | Journal of Inherited Metabolic Disease | 21 | 19 | |
2012 | Newborn screening for phenylketonuria: Machine learning vs clinicians | Chen W.-H.; Chen H.-P.; Tseng Y.-J.; Hsu K.-P.; Hsieh S.-L.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Lai F. | Proceedings of the 2012 IEEE/ACM International Conference on Advances in Social Networks Analysis and Mining, ASONAM 2012 | 3 | 0 | |
2017 | Newborn screening for severe combined immunodeficiency in Taiwan | YIN-HSIU CHIEN ; HSIN-HUI YU ; NI-CHUNG LEE ; Ho H.-C.; Kao S.-M.; MENG-YAO LU ; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; WUH-LIANG HWU | International Journal of Neonatal Screening | 38 | 0 | |
2010 | Newborn screening healthcare information system based on service-oriented architecture | Hsieh, S.-H.; Hsieh, S.-L.; YIN-HSIU CHIEN ; Weng, Y.-C.; Hsu, K.-P.; Chen, C.-H.; Tu, C.-M.; Wang, Z.; FEI-PEI LAI | Journal of Medical Systems | 9 | 6 | |
2021 | Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go | Dangouloff, Tamara; Vrščaj, Eva; Servais, Laurent; Osredkar, Damjan; YIN-HSIU CHIEN | Neuromuscular disorders : NMD | 95 | 72 | |