Lv2
178 积分 2024-03-06 加入
[Triploidy syndrome: a case report]
9小时前
求助中
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development
24天前
已完结
Rhythmic cortical myoclonus in patients with 6Q22.1 deletion
1个月前
已完结
Spectrum and origin of mutations in sporadic cases of haemophilia A in China
1个月前
已完结
Pathophysiology of compound heterozygotes involving hemoglobinopathies and thalassemias
3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)
3个月前
已关闭
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination
3个月前
已完结
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay
3个月前
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
3个月前
已完结
Genetic Abnormalities in Neurodevelopmental Disorders with Multidimensional Impairment
4个月前
已完结
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