Lv2
134 积分 2020-11-09 加入
[Analysis of genotype and phenotype correlation of MYH7-V878A mutation among ethnic Han Chinese pedigrees affected with hypertrophic cardiomyopathy]
5天前
已完结
Clinical Utility of a Phenotype-Enhanced MYH7-Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing
5天前
已关闭
Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy
6天前
已关闭
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants
14天前
已完结
A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm
16天前
已关闭
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers
16天前
已完结
De novo germline mutations of the p53 gene in young children with sarcomas
18天前
已完结
Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis
20天前
已完结
Hemoglobin Dieppe (HBB:c. 383A > G): A Rare Dominant β-Thalassemia in an Iraqi Kurdish Family
21天前
已完结
Association of Hb Santa Ana [alpha 2 beta (2)88(F4)Leu- > Pro] and Hb Porto Alegre [alpha 2 beta (2)9(A6)Ser- > Cys] in a Brazilian female
21天前
已完结
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