Lv1
54 积分 2024-01-31 加入
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
3天前
已完结
Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam
1个月前
已完结
Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia
1个月前
已完结
Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and Are Associated With Distinctive Clinical Features
1个月前
已完结
Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and Are Associated With Distinctive Clinical Features
1个月前
已完结
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
2个月前
已关闭
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations
2个月前
已完结
Exploration of a novel noninvasive prenatal testing approach for monogenic disorders based on fetal nucleated red blood cells
2个月前
已完结
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