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Home > Our Research Activities > List Of Publications > Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

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

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

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