Lista de obras - Katherine W. Timothy - Dominio Público Uruguay

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function

artículo científico publicado en 2004

A multicentre study of patients with Timothy syndrome.

artículo científico publicado en 2017

An intronic mutation causes long QT syndrome

artículo científico publicado en 2004

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

scientific journal article

Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine

artículo científico publicado en 2007

Clinical Outcomes and Modes of Death in Timothy Syndrome

scholarly article

Compound mutations: a common cause of severe long-QT syndrome

artículo científico publicado en 2004

Congenital Long QT syndrome

artículo científico publicado en 2002

Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome

artículo científico publicado en 2007

Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome

artículo científico

Modulating effects of age and gender on the clinical course of long QT syndrome by genotype

artículo científico publicado en 2003

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

artículo científico publicado en 2005

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome

scientific article published on 09 September 2011

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

artículo científico publicado en 2004

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

artículo científico publicado en 2006

Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity

article

Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia

artículo científico publicado en 2002

Lista de obras de Katherine W. Timothy

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function

A multicentre study of patients with Timothy syndrome.

An intronic mutation causes long QT syndrome

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine

Clinical Outcomes and Modes of Death in Timothy Syndrome

Compound mutations: a common cause of severe long-QT syndrome

Congenital Long QT syndrome

Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome

Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome

Modulating effects of age and gender on the clinical course of long QT syndrome by genotype

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome

Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity

Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia