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
Protein interaction network analysis reveals genetic enrichment of immune system genes in frontotemporal dementia
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Neurobiology of aging - ISSN 0197-4580-116 (2022) p. 67-79
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort
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Genetics in medicine - ISSN 1530-0366-24:5 (2022) p. 1045-1053
Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome
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Journal of medical genetics - ISSN 0022-2593-58:11 (2021) p. 778-782
Molecular and functional study of two frequent syndromic Autism Spectrum Disorders : Helsmoortel-Van der Aa Syndrome and Fragile X Syndrome
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Antwerpen, Universiteit Antwerpen, Faculteit Farmaceutische, Biomedische en Diergeneeskundige Wetenschappen, Departement Biomedische Wetenschappen, 2021,