PuSH - Publication Server of Helmholtz Zentrum München

9 Records found.
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1.
Vasileiou, G.* et al.: Mutations in the BAF-complex subunit DPF2 are associated with coffin-siris syndrome. Am. J. Hum. Genet. 102, 468-479 (2018)
2.
Bramswig, N.C.* et al.: Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum. Genet. 136, 821-834 (2017)
3.
Parenti, I.* et al.: Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Hum. Genet. 136, 307-320 (2017)
4.
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)
5.
Beleggia, F.* et al.: CRIM1 haploinsufficiency causes defects in eye development in human and mouse. Hum. Mol. Genet. 24, 2267-2273 (2015)
6.
Bögershausen, N.* et al.: RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J. Clin. Invest. 125, 3585-3599 (2015)
7.
Bramswig, N.C.* et al.: Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes. Hum. Genet. 134, 553-568 (2015)
8.
Collin, R.W.* et al.: Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum. Mutat. 28, 718-723 (2007)
9.
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)