Genetics in Medicine Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.524-537. ⟨10.1038/s41436-019-0657-0⟩ Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 3 Genetics in Medicine, 22(3), 524-537. Nature Publishing Group Genet Med Genetics in Medicine, 22(3), 524-537. NATURE PUBLISHING GROUP
Web of Science Faundes, V, Goh, S, Akilapa, R, Bezuidenhout, H, Bjornsson, H T, Brady, A F, Brischoux-Boucher, E, Brunner, H, Bulk, S, Canham, N, Cody, D, Dentici, M L, Digilio, M C, Elmslie, F, Fry, A E, Gill, H, Hurst, J, Johnson, D, Julia, S, Lachlan, K, Lebel, R R, Byler, M, Gershon, E, Lemire, E, Gnazzo, M, Lepri, F R, Marchese, A, McEntagart, M, McGaughran, J, Mizuno, S, Okamoto, N, Rieubland, C, Sasaki, E, Scalais, E, Scurr, I, Suri, M, van der Burgt, I, Matsumoto, N, Miyake, N, Benoit, V, Lederer, D & Banka, S 2021, ' Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01119-8 Genetics in Medicine Genetics in Medicine, 23, 7, pp. 1202-1210 Genetics in Medicine, 23, 1202-1210 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