公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2002 | Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan | Chu S.-Y.; Chiang S.-C.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 7 | 0 | |
2005 | Spectrum of hypermethioninemia in neonatal screening | YIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; WUH-LIANG HWU | Early Human Development | 34 | 26 | |
2004 | A step-wise diagnosis of fragile X syndrome in Taiwan | Huang Y.-T.; Chiang S.-C.; Tzeng C.-C.; Liu C.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 7 | 0 | |
2020 | The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan | Chiang S.-C.; YIN-HSIU CHIEN ; Chang K.-L.; NI-CHUNG LEE ; WUH-LIANG HWU | International Journal of Neonatal Screening | 1 | 1 | |
2001 | Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations | YIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU ; Chou S.-P.; Chu S.-Y.; Wang T.-R.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 32 | 20 | |
2003 | Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease | Yang C.-C.; Lai L.-W.; Whitehair O.; WUH-LIANG HWU ; Chiang S.-C.; Lien Y.-H.H. | Clinical Genetics | 19 | 16 |