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  1. Article

    Open Access

    Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

    Dilated cardiomyopathy (DCM) belongs to the most frequent forms of cardiomyopathy mainly characterized by cardiac dilatation and reduced systolic function. Although most cases of DCM are classified as sporadic...

    Mythily Ganapathi, Loukas Argyriou, Francisco Martínez-Azorín… in Human Genetics (2020)

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  2. Article

    Open Access

    Identification of subtelomeric genomic imbalances and breakpoint map** with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

    Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR). The aim of the study was to evaluate a quantitativ...

    Bernd Auber, Verena Bruemmer, Barbara Zoll, Peter Burfeind… in Molecular Cytogenetics (2009)

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