Publications
Filters: Keyword is Histone Demethylases [Clear All Filters]
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome." J. Clin. Invest.. 2015;125(9):3585-99. Abstract
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Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia." Clin. Dysmorphol.. 2015;24(4):135-9. Abstract
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Kabuki syndrome: clinical and molecular diagnosis in the first year of life." Arch. Dis. Child.. 2015;100(2):158-64. Abstract
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Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome." Am. J. Hum. Genet.. 2012;90(1):119-24. Abstract
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