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Combined use of in silico and in vitro splicing assays for interpretation of genomic variants of unknown significance in cardiomyopathies and channelopathies
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Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child
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Novel SCN5A mutation associated with idiopathic ventricular fibrillation due to subclinical Brugada syndrome
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Thanks to Reviewers
Alström syndrome, arrhythmia, cardiomyopathy.
Brugada syndrome, arrhythmia, genetics, double mutant, sodium channel.
European Society of Cardiology (ESC)
atrium, cardiac surgery, haematopoietic progenitor cells, myxoma, trisomy.
cardiomyopathies, arrhythmia syndromes, splice mutations, molecular diagnosis.
cardiomyopathy, Duchenne muscular dystrophy, Becker muscular dystrophy, Duchenne and Becker carriers, genetics, echocardiography.
cardiomyopathy, sarcomere protein disease, classification, diastology.
cardiovascular research, bioinformatic approaches.
congestive heart failure
education, familial hypertrophic cardiomyopathy phenotype, left ventricular systolic dysfunction, extensive myocardial fibrosis, cardiogenetics.
epigenetics, cardiovascular disease, primary prevention, hypercholesterolemia, novel risk factors.
hypertrophic cardiomyopathy, HCM, gene expression, microarray.
idiopathic restrictive cardiomyopathy, hypertrophic cardiomyopathy, sarcomeric genes.
inherited cardiac disease
lysosomal storage disorders, diagnosis and management.
myocardial and pericardial diseases
sequence capture, massively parallel sequencing, restrictive cardiomyopathy, desmin, missense mutation.
sudden cardiac death
Jirikowic, Jean, University of Colorado Denver, Aurora CO, United States
Vol 1, No 1 (2011)
- Original Articles
Tafazzin gene mutations are uncommon causes of dilated cardiomyopathy in adults
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