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1.
Kremer, L.S. et al.: Biallelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy. Am. J. Hum. Genet. 98, 358-362 (2016)
2.
McCarthy, S.* et al.: A reference panel of 64,976 haplotypes for genotype imputation. Nat. Genet. 48, 1279-1283 (2016)
3.
van Haute, L.* et al.: Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3. Nat. Commun. 7:12039 (2016)
4.
Haack, T.B. et al.: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann. Clin. Transl. Neurol. 2, 492-509 (2015)
5.
Ross, M.T.* et al.: The DNA sequence of the human X chromosome. Nature 434, 325-337 (2005)