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Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; ... (2021). Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine, 23(7), pp. 1202-1210. Springer Nature 10.1038/s41436-021-01119-8
Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; ... (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), pp. 954-962. Lippincott Williams & Wilkins 10.1212/WNL.0000000000002457
