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    • Guidelines & consensus (WG11)
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Home > Our Research Activities > List Of Publications > Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

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

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Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
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