Lv4
710 积分 2022-11-09 加入
Myotonia Fluctuans
3小时前
待确认
Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel
3小时前
已完结
Resolving misalignment interference for NGS-based clinical diagnostics
7天前
已完结
WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity
10天前
已完结
X-linked adrenoleukodystrophy: Diagnostic and follow-up system in Japan
14天前
已完结
Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry
16天前
已完结
Genetic analysis of autosomal dominant polycystic kidney disease in Iranian families: a combined Sanger and next-generation sequencing study
23天前
已完结
Screening the 3? region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations
23天前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
1个月前
已完结
不孕症诊断指南
1个月前
已完结
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