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Combined use of in silico and in vitro splicing...
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Thanks to Reviewers
Anderson-Fabry, heart failure, renal failure, stroke, genetics, enzyme replacement therapy.
Brugada syndrome, arrhythmia, genetics, double mutant, sodium channel.
European Society of Cardiology (ESC)
cardiomyopathies, arrhythmia syndromes, splice mutations, molecular diagnosis.
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.
mucopolysaccharidoses (MPS), heart, heart and MPS, genetics and MPS.
myocardial and pericardial diseases
sequence capture, massively parallel sequencing, restrictive cardiomyopathy, desmin, missense mutation.
sudden cardiac death
β adrenergic receptor, sympathetic nervous system.
Jakóbczyk, Małgorzata, Department of Haematology, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland
Vol 2, No 1 (2012)
- Clinical and Experimental Cases/Hypothesis
A new clonal chromosomal aberration (47, XY, +21) in atrial myxoma from an elderly male patient
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