Not logged inMicroduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
van der Sluijs, Pleuntje J.; Moutton, Sebastien; Dingemans, Alexander J. M.; Weis, Denisa; Levy, Michael A.; Boycott, Kym M.; Arberas, Claudia; Baldassarri, Margherita; Beneteau, Claire; Brusco, Alfredo; Coutton, Charles; Dabir, Tabib; Dentici, Maria L.; Devriendt, Koenraad; Faivre, Laurence; Haelst, Mieke M. van; Jizi, Khadije; Kempers, Marlies J.; Kerkhof, Jennifer; Kharbanda, Mira; Lachlan, Katherine; Marle, Nathalie; Mcconkey, Haley; Mencarelli, Maria A.; Mowat, David.; Niceta, Marcello; Nicolas, Claire; Novelli, Antonio; Orlando, Valeria; Pichon, Olivier; Rankin, Julia; Relator, Raissa.; Ropers, Fabienne G.; Rosenfeld, Jill A.; Sachdev, Rani; Sandaradura, Sarah A.; Shukarova-Angelovska, Elena; Steenbeek, Duco; Tartaglia, Marco; Tedder, Matthew A.; Trajkova, Slavica; Winer, Norbert; Woods, Jeremy; de Vries, Bert B. A.; Sadikovic, Bekim; Alders, Marielle; Santen, Gijs W. E.
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SaveDe novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
Galosi, Serena; Edani, Ban H.; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A.; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Danielle G. M.; Ellis, Colin A.; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Baranano, Kristin W.; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noelle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E.; Venkateswaran, Sunita; Wheeler, Patricia G.; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C.; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F.; Grabinska, Kariona A.; Leuzzi, Vincenzo
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