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Recommendations for whole genome sequencing in diagnostics for rare diseases
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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder
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ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum
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Mutation update for the SATB2 gene
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- Journal Article
- A1
- open access
Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848