Visualitzant Articles publicats (D-CM) per autor "Allegue Toscano, Catarina"
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The Role of clinical, genetic and segregation evaluation in sudden infant death

Post-mortem genetic analysis in juvenile cases of sudden cardiac death

Brugada syndrome and p.E61X_RANGRF

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia

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

Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies

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

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

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

Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants