Huang Aichu | Department Of Medical Genetics National Taiwan University Hospital
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概要
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
- Parallel minisequencing followed by multiplex matrix-assisted laser desorption/ionization mass spectrometry assay for β-thalassemia mutations
- 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