Lista de obras - Lena Refsgaard - Dominio Público Uruguay

A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation

artículo científico publicado en 2013

Brugada syndrome risk loci seem protective against atrial fibrillation

artículo científico publicado en 2014

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation

artículo científico publicado en 2017

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation

artículo científico publicado en 2017

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

artículo científico publicado en 2017

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.

artículo científico publicado en 2013

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

artículo científico publicado en 2012

IKs Gain- and Loss-of-Function in Early-Onset Lone Atrial Fibrillation

scientific journal article

Multi-ethnic genome-wide association study for atrial fibrillation

article

Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy

artículo científico publicado en 2012

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data

artículo científico publicado en 2013

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

artículo científico publicado en 2013

Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

artículo científico publicado en 2018

Screening of the ito regulatory subunit klf15 in patients with early-onset lone atrial fibrillation

artículo científico publicado en 2013

Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics

artículo científico publicado en 2012

Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation

artículo científico publicado en 2013

Lista de obras de Lena Refsgaard

A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation

Brugada syndrome risk loci seem protective against atrial fibrillation

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

IKs Gain- and Loss-of-Function in Early-Onset Lone Atrial Fibrillation

Multi-ethnic genome-wide association study for atrial fibrillation

Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

Screening of the ito regulatory subunit klf15 in patients with early-onset lone atrial fibrillation

Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics

Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation