Lv1
70 积分 2023-01-07 加入
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
3天前
已完结
Whole-genome DNA sequencing: The key to detecting a sarcomeric mutation in a ‘false genotype-negative’ family with hypertrophic cardiomyopathy
11天前
已完结
Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland
11天前
已完结
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory
1个月前
已关闭
Novel biallelic mutations in PADI6 in patients with early embryonic arrest
1个月前
已完结
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease
1个月前
已完结
Thrombosis risk of Alport syndrome patients: evaluation of cardiological, clinical, biochemical, genetic and possible causes of inherited thrombophilia and identification of a novel COL4A3 variant
1个月前
已关闭
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions
1个月前
已完结
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations
1个月前
已完结
Mutations in GJB6 cause hidrotic ectodermal dysplasia
1个月前
已完结
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