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Genetics
Advances in molecular and clinical genetics have yielded large number of genes, involved in hereditary cardiomyopathies and heart failure. Key pathological mechanisms are related to defects in structural proteins (sarcomeric proteins or intermediate filaments) and mitochondrial energy production. [more]
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Bert SmeetsACADEMIC STAFF
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Related publications
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published on 01-08-2010
Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals -
published on 15-04-2010
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients -
published on 05-09-2011
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies