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Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
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Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations
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Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)
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Prenatally detected copy number variants in a national cohort : a postnatal follow-up study
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Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease
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- Journal Article
- A1
- open access
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
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The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations
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'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
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The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects