Lv3
280 积分 2025-01-19 加入
Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa
5天前
已完结
Partial trisomy 5q resulting from chromosome 7 insertion: An expansion of the phenotype
1个月前
已关闭
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia
1个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
3个月前
已完结
Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation
3个月前
已完结
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