Lv44
620 积分 2025-03-17 加入
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory
1小时前
待确认
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
2天前
已完结
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants
14天前
已完结
Five patients with 11β-hydroxylase deficiency due to CYP11B1 gene mutation: A case study
14天前
已完结
Genetic Basis of Childhood Cardiomyopathy
1个月前
已完结
染色体拷贝数变异技术在产前诊断中的应用指南
1个月前
已关闭
Hemizygous Fabry disease associated with membranous nephropathy: A rare case report
1个月前
已完结
Clinical features of dilated cardiomyopathy-like hypertrophic cardiomyopathy caused by a 13261G＞A mutation in cardiac myosin-binding protein C gene
1个月前
已完结
Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA
1个月前
已完结
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency
1个月前
已完结
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