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Home > Our Research Activities > List Of Publications > Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus 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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Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

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