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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Date: July 20, 2023Authors:Adam Jackson, Adi Vaknin-Dembinsky, Alexander J M Dingemans, Alexander P.A. Stegmann, Alexandre Reymond, …Journal: American journal of human geneticsJournal Volume: 108Collaborators: -
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Date: June 26, 2023Authors:Alessandra Terracciano, Alexander Pepler, Alexandra Afenjar, Ana Beleza Meireles, Andrew O M Wilkie, …Journal: American journal of human geneticsJournal Volume: 7Collaborators: