Lv1
60 积分 2023-12-27 加入
Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome
13天前
已关闭
Effectiveness of each Bethesda marker in defining microsatellite instability when screening for Lynch syndrome
15天前
已关闭
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux
19天前
已完结
Nationwide survey of hereditary pancreatitis in Japan
21天前
已完结
[Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia]
25天前
已完结
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations
26天前
已完结
Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease
29天前
已关闭
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
1个月前
已完结
Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene
1个月前
已完结
[Clinical phenotypes of TBC1D24 gene related epilepsy]
1个月前
已完结
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