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TITLE: CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
AUTHORS: Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye Duriez, Andree; Doco Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W.; Heron, Delphine; Hildebrand, Michael S.; Lesca, Gaetan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A.; Morgan, Angela T.; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz Pallares, Nathalie; Tran Mau Them, Frederic; Van Kessel, Imke N.; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 5
INDEXED IN: Scopus WOS
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TITLE: Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth
AUTHORS: Lionel Van Maldergem; Qingming M Hou; Vera M Kalscheuer; Marlene Rio; Martine Doco Fenzy; Ana Medeira; Arjan P M de Brouwer; Christelle Cabrol; Stefan A Haas; Pierre Cacciagli; Sebastien Moutton; Emilie Landais; Jacques Motte; Laurence Colleaux; Celine Bonnet; Laurent Villard; Juliette Dupont; Heng Ye Man;
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 16
INDEXED IN: Scopus WOS CrossRef