Browsing by Author "Perez-Serra, Alexandra"
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A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome

Molecular heterogeneity of large-conductance calcium-activated potassium channels in canine intracardiac ganglia

A Better Look at Learning: How Does the Brain Express the Mind?

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort

Rare titin (TTN) variants in diseases associated with sudden cardiac death

Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

Transcriptional regulation of the sodium channel gene (SCN5A) by GATA4 in human heart

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants

Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach

Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death

Clinical impact of rare variants associated with inherited channelopathies: a 5-year update

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes