Publications

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2016
Bögershausen N, Gatinois V, Riehmer V, et al. "Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2." Hum. Mutat.. 2016. Abstract
2015
Bögershausen N, Tsai I-C, Pohl E, et al. "RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome." J. Clin. Invest.. 2015;125(9):3585-99. Abstract
2011
Li Y, Bögershausen N, Alanay Y, et al. "A mutation screen in patients with Kabuki syndrome." Human genetics. 2011. Abstract
2005
Armstrong L, Abd El Moneim A, Aleck K, et al. "Further delineation of Kabuki syndrome in 48 well-defined new individuals." Am. J. Med. Genet. A. 2005;132A(3):265-72. Abstract