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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)
Haack, T.B. et al.: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann. Clin. Transl. Neurol. 2, 492-509 (2015)
Haack, T.B. et al.: Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Mol. Genet. Metab. 111, 342-352 (2014)
van der Harst, P.* et al.: Seventy-five genetic loci influencing the human red blood cell. Nature 492, 369-375 (2012)
Gieger, C. et al.: New gene functions in megakaryopoiesis and platelet formation. Nature 480, 201-208 (2011)