about
A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.Effects of fructooligosaccharides on cecum polyamine concentration and gut maturation in early-weaned piglets.Biological significance of dietary polyamines.Left atrial remodelling in hypertrophic cardiomyopathy: relation with exercise capacity and biochemical markers of tissue strain and remodelling.Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy.An R1632C variant in the SCN5A gene causing Brugada syndrome.A gene variant in the transcription factor 7-like 2 (TCF7L2) is associated with an increased risk of gestational diabetes mellitusA study of the pathogenicity of variants in familial heart disease. The value of cosegregationInsights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3Hypertrophic cardiomyopathy or storage cardiomyopathy? Role of genetics to predict outcomeBarth syndrome in adulthood: a clinical caseMutation in JPH2 cause dilated cardiomyopathyHypertrophic cardiomyopathyPhenotype-modifying Factors in Hypertrophic Cardiomyopathy. ResponsePhenotypic Characterization of a Family With An In-frame Deletion in the DMD Gene and Variable PenetranceGenetics of feline hypertrophic cardiomyopathyFilamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotypeRNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathyFormin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic CardiomyopathyBi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
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description
researcher, ORCID id # 0000-0003-1352-1748
@en
wetenschapper
@nl
name
María Sabater-Molina
@ast
María Sabater-Molina
@en
María Sabater-Molina
@nl
type
label
María Sabater-Molina
@ast
María Sabater-Molina
@en
María Sabater-Molina
@nl
prefLabel
María Sabater-Molina
@ast
María Sabater-Molina
@en
María Sabater-Molina
@nl
P106
P31
P496
0000-0003-1352-1748