公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2016 | 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency | YIN-HSIU CHIEN ; Chen P.-W.; NI-CHUNG LEE ; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU ; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C. | Molecular Genetics and Metabolism | 51 | 42 | |
2011 | Application of CHD1 gene and EE0.6 sequences to identify sexes of several protected bird species in Taiwan | Lin E.-C.; Hsu H.-A.; Chao M.-C.; Chan F.-T.; Wang L.-M.; Tsao H.-S.; Chang C.-H.; Lin P.-Y.; Wang B.-J.; Yuan H.-W.; Ding S.-T.; Wang P.-H.; PEI-HWA WANG | Taiwania | 5 | ||
2001 | Auditory abnormalities associated with unilateral renal agenesis | Huang H.-M.; Yeh R.-M.; CHING-TING TAN ; Chao M.-C.; Lin K.-N. | International Journal of Pediatric Otorhinolaryngology | 10 | 7 | |
2004 | Comparison of nucleotide sequence of p2C region in diabetogenic and non-diabetogenic Coxsackie virus B5 isolates | Chou C.-C.; Lin K.-H.; Ke G.-M.; YI-CHING TUNG ; Chao M.-C.; Cheng J.-Y.; Chen B.-H. | Kaohsiung Journal of Medical Sciences | 2 | 0 | |
2019 | Congenital generalized lipodystrophy in Taiwan | Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai F.-J.; Wang C.-H.; NI-CHUNG LEE | Journal of the Formosan Medical Association | 11 | 8 | |
2013 | Development of 24 new microsatellite markers in the Crested Serpent Eagle (Spilornis cheela hoya) | Hsu H.-H.; SHIH-TORNG DING ; Chang Y.-Y.; Chao M.-C.; Tsao H.-S.; Chan F.-T.; Hsu C.-C.; HSIAO-WEI YUAN ; PEI-HWA WANG | Conservation Genetics Resources | 2 | 1 | |
2013 | Fatty acid oxidation disorders in a chinese population in Taiwan | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.; WUH-LIANG HWU | JIMD Reports | 25 | 0 | |
2010 | FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome | Lin W.-D.; Chou I.-C.; NI-CHUNG LEE ; Wang C.-H.; WUH-LIANG HWU ; Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J. | Clinical Chemistry and Laboratory Medicine | 6 | 4 | |
2018 | Functional independence of Taiwanese children with Prader–Willi syndrome | Lee C.-L.; Lin H.-Y.; Tsai L.-P.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Niu D.-M.; Chao M.-C.; Tsai F.-J.; Chou Y.-Y.; Chuang C.-K.; Lin S.-P. | American Journal of Medical Genetics, Part A | 1 | 2 | |
2019 | Functional independence of Taiwanese patients with mucopolysaccharidoses | Lee C.-L.; Lin H.-Y.; Chuang C.-K.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; WUH-LIANG HWU ; Tsai F.-J.; Chiu P.-C.; Niu D.-M.; Chen Y.-J.; Chao M.-C.; Chang T.-M.; Lin J.-L.; Chang C.-Y.; Kao Y.-C.; Lin S.-P. | Molecular Genetics and Genomic Medicine | 4 | 4 | |
2009 | Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004 | Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU ; Lin J.-L. | American Journal of Medical Genetics, Part A | 155 | 139 | |
2007 | Multiplex ligation-dependent probe amplification identification of deletions and duplications of the duchenne muscular dystrophy gene in Taiwanese subjects | HSIAO-LIN HWA ; Chang Y.-Y.; Chen C.-H.; Kao Y.-S.; Jong Y.-J.; Chao M.-C.; TSANG-MING KO | Journal of the Formosan Medical Association | 31 | 26 | |
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 | |
2014 | Outcome of early-treated type III Gaucher disease patients | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; STEVEN SHINN-FORNG PENG ; Leung J.H.; Chao M.-C.; CHIA-TUNG SHUN ; WUH-LIANG HWU | Blood Cells, Molecules, and Diseases | 22 | 18 | |
2005 | Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype | Tzeng C.-C.; Tsai L.-P.; WUH-LIANG HWU ; Lin S.-J.; Chao M.-C.; Jong Y.-J.; Chu S.-Y.; Chao W.-C.; Lu C.-L. | American Journal of Medical Genetics | 56 | 51 | |
2010 | Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 2 | 2 | |
2008 | Small mutations of the DMD gene in Taiwanese families | HSIAO-LIN HWA ; Chang Y.-Y.; Huang C.-H.; Chen C.-H.; Kao Y.-S.; Jong Y.-J.; Chao M.-C.; TSANG-MING KO | Journal of the Formosan Medical Association | 7 | 4 | |
2020 | Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019) | Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; YIN-HSIU CHIEN ; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P. | Orphanet Journal of Rare Diseases | 16 | 13 |