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Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2025
AUTS2-related syndrome: Insights from a large European cohortLorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.Pageof 3