Lv12
90 积分 2024-05-28 加入
[Analysis of PKD1 gene mutation in a family affected with autosomal dominant polycystic kidney disease]
1天前
已完结
Mutation Analysis of <i>PKD1</i> and <i>PKD2</i> Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement
1天前
求助中
Identification of deleterious variants in nine polycystic kidney disease affected families
2个月前
已完结
A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing
3个月前
已完结
Hb Shenyang (α26(B7) Ala → GLU): A New Unstable Variant Found in China
3个月前
已完结
DESCRIPTION OF A NEW SLOW HEMOGLOBIN IN A CASERTIAN FAMILY (HB CASERTA)
3个月前
已关闭
Mutation Analysis of <i>PKD1</i> and <i>PKD2</i> Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement
3个月前
已关闭
Polycystic kidney disease. 1
3个月前
已关闭
Facial dysgenesis: A novel facial syndrome with chromosome 7 deletion p15.1-21.1
3个月前
已完结
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