PuSH - Publication Server of Helmholtz Zentrum München

5 Records found.
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1.
Nicolas, A.* et al.: Genome-wide analyses identify KIF5A as a novel ALS gene. Neuron 97, 1268-1283.e6 (2018)
2.
Kim, J.H.* et al.: De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome. Am. J. Hum. Genet. 99, 711-719 (2016)
3.
McCarthy, S.* et al.: A reference panel of 64,976 haplotypes for genotype imputation. Nat. Genet. 48, 1279-1283 (2016)
4.
Assimes, T.L.* et al.: Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. J. Am. Coll. Cardiol. 56, 1552-1563 (2010)
5.
McGowan, K.A. et al.: Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nat. Genet. 40, 963-970 (2008)