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Home > Our Research Activities > List Of Publications > QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum

QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum

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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes – in pediatric patients screened with NGS panels
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