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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
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- Journal Article
- A1
- open access
Frequency of participation in external quality assessment programs focused on rare diseases : Belgian guidelines for human genetics centers
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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