スポンサーリンク
Department Of Medical Genetics National Taiwan University Hospital | 論文
- A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay
- Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis
- Spectrum of hypermethioninemia in Taiwan
- Changing outcome in inborn errors after newborn screening
- Phenotypes and genotypes of hyperphenylalaninemia in Taiwan
- Phenotypes and genotypes of hyperphenylalaninemia in Taiwan
- Parallel minisequencing followed by multiplex matrix-assisted laser desorption/ionization mass spectrometry assay for β-thalassemia mutations
- Spectrum of hypermethioninemia in Taiwan
- Changing outcome in inborn errors after newborn screening
- Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
- Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia