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1.
Bögershausen, N.* et al.: Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2. Hum. Mutat. 37, 847-864 (2016)
2.
Bögershausen, N.* et al.: RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J. Clin. Invest. 125, 3585-3599 (2015)
3.
Severin, F. et al.: Points to consider for prioritizing clinical genetic testing services:  European consensus process oriented at accountability for reasonableness. Eur. J. Hum. Genet. 23, 729-735 (2014)
4.
Kalay, E.* et al.: Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 27, 633-639 (2006)