Lv7
4410 积分 2022-10-12 加入
Identification of a Novel Compound Heterozygous Variant in the ALPL Gene Linked to Hypophosphatasia in a Chinese Family
3天前
已完结
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy
6天前
已完结
Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner’s office referrals to a multi-disciplinary cardiogenetics program
8天前
已完结
Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene
8天前
已完结
Mapping disease‐related missense mutations in the immunoglobulin‐like fold domain of lamin A/C reveals novel genotype–phenotype associations for laminopathies
10天前
已完结
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
10天前
已完结
ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium
12天前
已完结
Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia
12天前
已完结
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia
12天前
已完结
Implications of Genetic Testing in Dilated Cardiomyopathy
13天前
已完结
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