Publications

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2014
Micale L, Augello B, Maffeo C, et al. "Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients." Hum. Mutat.. 2014. Abstract
2013
Makrythanasis P, van Bon BW, Steehouwer M, et al. "MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study." Clin. Genet.. 2013. Abstract
2012
Priolo M, Micale L, Augello B, et al. "Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome." Mol. Genet. Metab.. 2012;107(3):627-9. Abstract
2011
Micale L, Augello B, Fusco C, et al. "Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients." Orphanet J Rare Dis. 2011;6:38. Abstract