varAmpliCNV : analyzing variance of amplicons to detect CNVs in targeted NGS data
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Bioinformatics - ISSN 1367-4803-31:1 (2023) p. 1-8
Cardiogeneticsbank@UZA : a collection of DNA, tissues, and cell lines as a translational tool
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Frontiers in Medicine - ISSN 2296-858X-6 (2019) p.
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection : further delineation of the phenotype
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Journal of medical genetics - ISSN 0022-2593-56:4 (2019) p. 220-227
Severe phenotype of cutis laxa type 1B with antenatal signs due to a novel homozygous nonsense mutation in EFEMP2
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Molecular syndromology - ISSN 1661-8769-9:4 (2018) p. 190-196
Candidate gene resequencing in a large bicuspid aortic valve-associated thoracic aortic aneurysm cohort : SMAD6 as an important contributor
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Frontiers in physiology - ISSN 1664-042X-8 (2017) p.