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Home > Our Research Activities > List Of Publications > Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

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Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

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