公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
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 | |
2009 | Newborn screening system based on adaptive feature selection and support vector machines | Hsieh S.-H.; YIN-HSIU CHIEN ; Shen C.-P.; Chen W.-H.; Chen P.-H.; Hsieh S.-L.; Cheng P.-H.; Lai F. | Proceedings of the 2009 9th IEEE International Conference on Bioinformatics and BioEngineering, BIBE 2009 | 2 | 0 | |
2008 | A newborn screening system based on Service-Oriented Architecture embedded Support Vector Machine | Hsieh, S.-H.; Hsieh, S.-L.; YIN-HSIU CHIEN ; Wang, Z.; Weng, Y.-C.; FEI-PEI LAI | Proceedings of the 4th IEEE International Symposium on Service-Oriented System Engineering, SOSE 2008 | 1 | 0 | |
2019 | Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs | Hsu R.-H.; WUH-LIANG HWU ; Chen M.; Chung I.-F.; STEVEN SHINN-FORNG PENG ; Chen C.-Y.; Cheng W.-C.; YIN-HSIU CHIEN ; NI-CHUNG LEE | Pediatrics and Neonatology | 2 | 2 | |
2022 | Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy | Hsu, Rai-Hseng; NI-CHUNG LEE ; MING-TAI LIN ; TING-AN YEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Pediatrics and neonatology | 0 | 0 | |
2012 | A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child | Liu H.-M.; Tsai L.-P.; YIN-HSIU CHIEN ; JIA-FENG WU ; WEN-CHIN WENG ; STEVEN SHINN-FORNG PENG ; EN-TING WU ; PEI-HSIN HUANG ; WANG-TSO LEE ; I-JUNG TSAI ; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 10 | 9 | |
2021 | Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy | CHIH-LING CHEN ; CHIEN-NAN LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chang T.-M.; NI-CHUNG LEE | Children | 3 | 3 | |
2021 | A novel deep intronic variant strongly associates with Alkaptonuria | Lai C.-Y.; I-JUNG TSAI ; Chiu P.-C.; Ascher D.B.; YIN-HSIU CHIEN ; Huang Y.-H.; Lin Y.-L.; WUH-LIANG HWU ; NI-CHUNG LEE | npj Genomic Medicine | 5 | 5 | |
2009 | Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. | YIN-HSIU CHIEN ; WUH-LIANG HWU | Human genetics | 3 | 0 | |
2006 | De novo mutation in the BTK of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma | Lin M.-T.; YIN-HSIU CHIEN ; Shyur S.-D.; Huang L.-H.; Chiang Y.-C.; Wen D.-C.; Liang P.-H.; Yang H.-C. | Annals of Allergy, Asthma and Immunology | 14 | 9 | |