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Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene
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Missing heritability in Bloom syndrome: First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
(2021) Research Day. -
Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
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Missing heritability in Bloom syndrome: First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
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First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation
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First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation
(2020) -
The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations
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A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors
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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges