Irene Mademont

Girona, CT, Spain

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications

Title Not Found

Title Not Found

Journal: Advances in laboratory medicine
Published: June 30, 2023

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report.

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report.

Journal: Advances in laboratory medicine
Published: June 30, 2023

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Journal: PloS one
Published: September 15, 2017

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

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

Journal: PloS one
Published: February 07, 2017

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.

Journal: Forensic science international
Published: September 21, 2016

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

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

Journal: PloS one
Published: July 14, 2016

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

A Genetically Vulnerable Myocardium May Predispose to Myocarditis.

Journal: Journal of the American College of Cardiology
Published: July 15, 2015

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.

Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.

Journal: Seizure
Published: November 02, 2014
Showing 1-8 of 8

Last Updated: 09/26/2026