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4 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.
Srivastava, S.* et al.: Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur. J. Hum. Genet. 24, 556-561 (2016)
3.
Kuechler, A.* et al.: Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur. J. Hum. Genet. 23, 753-760 (2014)
4.
Rauch, A.* et al.: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study. Lancet 380, 1674-1682 (2012)