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186 积分 2024-03-06 加入
Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature
7天前
已完结
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease]
1个月前
已完结
[The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts]
1个月前
已完结
The Malmö International Brother Study (MIBS). Genetic defects and inhibitor development in siblings with severe hemophilia A
3个月前
已关闭
[Triploidy syndrome: a case report]
3个月前
已关闭
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development
4个月前
已完结
Rhythmic cortical myoclonus in patients with 6Q22.1 deletion
4个月前
已完结
Spectrum and origin of mutations in sporadic cases of haemophilia A in China
4个月前
已完结
Pathophysiology of compound heterozygotes involving hemoglobinopathies and thalassemias
6个月前
已关闭
Two Rare Hemoglobin Variants in the Turkish Population (Hb G-Coushatta (B 22(B4) GLU-ALA and Hb J Iran (B 77 (EF1) HIS-ASP)
6个月前
已关闭
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