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1.
Fischer, C.* et al.: Long-term functional and structural preservation of precision-cut human myocardium under continuous electromechanical stimulation in vitro. Nat. Commun. 10:117 (2019)
2.
Fischer, C.* et al.: Publisher Correction: Long-term functional and structural preservation of precision-cut human myocardium under continuous electromechanical stimulation in vitro. Nat. Commun. 10:532 (2019)
3.
Sachs, S. et al.: Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans. Am. J. Physiol. Endocrinol. Metab. 316, E866-E879 (2019)
4.
Beck, A.* et al.: Overexpression of UHRF1 promotes silencing of tumor suppressor genes and predicts outcome in hepatoblastoma. Clin. Epigenet. 10:27 (2018)
5.
Fernandes-Rosa, F.L.* et al.: A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism. Nat. Genet. 50, 355-361 (2018)
6.
Flannick, J.* et al.: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci. Data 5:180002 (2018)
7.
Iuso, A. et al.: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102, 1018-1030 (2018)
8.
Iuso, A. et al.: A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy. JIMD Rep., accepted (2018)
9.
Rivas, M.A.* et al.: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genet. 14:e1007329 (2018)
10.
Flannick, J.* et al.: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci. Data 4:170179 (2017)
11.
Herebian, D.* et al.: Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. Eur. J. Hum. Genet. 25, 1092-1095 (2017)
12.
Keipert, S. et al.: Long-term cold adaptation does not require FGF21 or UCP1. Cell Metab. 26, 437-446.e5 (2017)
13.
Kremer, L.S. et al.: Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat. Commun. 8:15824 (2017)
14.
Manning, A.* et al.: A low-frequency inactivating Akt2 variant enriched in the Finnish population is associated with fasting insulin levels and type 2 diabetes risk. Diabetes 66, 2019-2032 (2017)
15.
Calebiro, D.* et al.: Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas. J. Clin. Invest. 126, 3383-3388 (2016)
16.
Diener, S. et al.: Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. Mamm. Genome 27, 111-121 (2016)
17.
Fuchsberger, C.* et al.: The genetic architecture of type 2 diabetes. Nature 536, 41-47 (2016)
18.
Olsen, R.K.* et al.: Riboflavin-responsive and -non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency. Am. J. Hum. Genet. 98, 1130-1145 (2016)
19.
Rhayem, Y.* et al.: PRKACA somatic mutations are rare findings in aldosterone-producing adenomas. J. Clin. Endocrinol. Metab. 101, 3010-3017 (2016)
20.
Ronchi, C.L.* et al.: Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas. Eur. J. Endocrinol. 174, 363-372 (2016)