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10 积分 2025-03-19 加入
Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases
5小时前
已完结
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry
16天前
已完结
Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis
16天前
已完结
Clinical validation of RNA sequencing for Mendelian disorder diagnostics
1个月前
已完结
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