Lv1
100 积分 2024-11-15 加入
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease
1个月前
已完结
Expansion of the phenotypic and molecular spectrum of CWF19L1 ‐related disorder
1个月前
已完结
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17
1个月前
已完结
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
2个月前
已完结
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
3个月前
已完结
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
3个月前
已完结
Phenotypic and genotypic analysis of 11 fetal cases with Bardet–Biedl syndrome
4个月前
已完结
Heterogeneidade Molecular da Deficiência em Glicose-6-Fosfato Desidrogenase (G6PD) na População Portuguesa
4个月前
已关闭
Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism
4个月前
已完结
Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice
4个月前
已完结
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