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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis

Journal of the American College of Cardiology, 2009-11, Vol.54 (22), p.2065-2074

2009

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Mutation in the KCNQ1 gene leading to the short QT-interval syndrome

Circulation (New York, N.Y.), 2004-05, Vol.109 (20), p.2394-2397

2004

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Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

European journal of heart failure, 2017-04, Vol.19 (4), p.512-521

2017

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Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients: Results From a Multicenter Study

Circulation. Cardiovascular genetics, 2009-10, Vol.2 (5), p.418-427

2009

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A Single Na+ Channel Mutation Causing Both Long-QT and Brugada Syndromes

Circulation research, 1999-12, Vol.85 (12), p.1206-1206

1999

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Compound Heterozygosity for Mutations (W156X and R225W) in SCN5A Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System

Circulation research, 2003-02, Vol.92 (2), p.159-168

2003

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Towards the Development of AgoKirs: New Pharmacological Activators to Study Kir2.x Channel and Target Cardiac Disease

International journal of molecular sciences, 2020-08, Vol.21 (16), p.5746

2020

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Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

Circulation (New York, N.Y.), 2006-04, Vol.113 (13), p.1650-1658

2006

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BRAF inhibitors in BRAF V600E-mutated ameloblastoma: systematic review of rare cases in the literature

Medical oncology (Northwood, London, England), 2023-04, Vol.40 (6), p.163-163, Article 163

2023

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Cardiac conduction defects associate with mutations in SCN5A

Nature genetics, 1999-09, Vol.23 (1), p.20-21

1999

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Chernobyl’s Aftermath: Multiple Manifestations of Basalioma in a Patient after Radioactive Contamination in 1986

Radiation (Multidisciplinary Digital Publishing Institute), 2023-10, Vol.3 (4), p.203-210

2023

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An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome

Progress in biophysics and molecular biology, 2008-10, Vol.98 (2-3), p.319-327

2008

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A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families

Journal of molecular and cellular cardiology, 2005-06, Vol.38 (6), p.969-981

2005

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Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort

Heart rhythm, 2007-06, Vol.4 (6), p.752-755

2007

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Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies

Heart rhythm, 2006, Vol.3 (1), p.52-55

2006

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Role of sequence variations in the human ether -a -go -go -related gene (HERG, KCNH2) in the brugada syndrome

Cardiovascular research, 2005-12, Vol.68 (3), p.441-453

2005

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A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

European journal of human genetics : EJHG, 2011-07, Vol.19 (7), p.820-826

2011

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AKT and PERP Show Higher Expression in Precancerous than in Malignant Skin Neoplasms: Profiling in an Animal Model of Sequential Skin Carcinogenesis

Journal of personalized medicine, 2024-07, Vol.14 (8), p.790

2024

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Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy

Heart rhythm, 2014-11, Vol.11 (11), p.2010-2017

2014

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Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: Wide spectrum of disease in mutation carriers within a family

Heart rhythm, 2006-08, Vol.3 (8), p.939-944

2006

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A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics

Cardiovascular research, 2003-03, Vol.57 (4), p.1072-1078

2003

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Homozygous premature truncation of the HERG protein : The human HERG knockout

Circulation (New York, N.Y.), 1999-09, Vol.100 (12), p.1264-1267

1999

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The long QT syndrome : a novel missense mutation in the S6 region of the KVLQT1 gene

Human genetics, 1997-09, Vol.100 (3-4), p.356-361

1997

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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis

Mutation in the KCNQ1 gene leading to the short QT-interval syndrome

Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients: Results From a Multicenter Study

A Single Na+ Channel Mutation Causing Both Long-QT and Brugada Syndromes

Compound Heterozygosity for Mutations (W156X and R225W) in SCN5A Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System

Towards the Development of AgoKirs: New Pharmacological Activators to Study Kir2.x Channel and Target Cardiac Disease

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

BRAF inhibitors in BRAF V600E-mutated ameloblastoma: systematic review of rare cases in the literature

Cardiac conduction defects associate with mutations in SCN5A

Chernobyl’s Aftermath: Multiple Manifestations of Basalioma in a Patient after Radioactive Contamination in 1986

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome

A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort

Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies

Role of sequence variations in the human ether -a -go -go -related gene (HERG, KCNH2) in the brugada syndrome

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

AKT and PERP Show Higher Expression in Precancerous than in Malignant Skin Neoplasms: Profiling in an Animal Model of Sequential Skin Carcinogenesis

Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: Wide spectrum of disease in mutation carriers within a family

A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics

Homozygous premature truncation of the HERG protein : The human HERG knockout

The long QT syndrome : a novel missense mutation in the S6 region of the KVLQT1 gene

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