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List of works by Olivier Vanakker

A likely pathogenic variant in the gene presenting with progressive myoclonus

article

From membrane to mineralization: the curious case of the ABCC6 transporter

scientific article published on 01 November 2020

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

scientific article published on 15 February 2014

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

scientific article

Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum

scientific article published on 06 May 2020

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

scientific article published in January 2008

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

scientific article published on 05 July 2019

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

scientific article published on 02 September 2020

The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

article

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