PuSH - Publication Server of Helmholtz Zentrum München

11 Records found.
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1.
Garg, S.* et al.: Hepatic leukemia factor is a novel leukemic stem cell regulator in DNMT3A, NPM1, and FLT3-ITD triple-mutated AML. Blood, accepted (2019)
2.
Bruni, F.* et al.: Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Hum. Mutat. 39, 563-578 (2018)
3.
Lai, T.* et al.: Acid-suppressive drug use during pregnancy and the risk of childhood asthma: A meta-analysis. Pediatrics 141:e20170889 (2018)
4.
Egaña, I.* et al.: Female mice lacking Pald1 exhibit endothelial cell apoptosis and emphysema. Sci. Rep. 7:15453 (2017)
5.
Glasgow, R.I.C.* et al.: Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics 18, 1-9 (2017)
6.
Sommerville, E.W.* et al.: Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurol. 74, 686-694 (2017)
7.
Alston, C.L.* et al.: A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J. Med. Genet. 53, 634-641 (2016)
8.
Alston, C.L.* et al.: Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. Am. J. Hum. Genet. 99, 217-227 (2016)
9.
Oláhová, M.* et al.: A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. Eur. J. Hum. Genet. 23, 935-939 (2015)
10.
Oláhová, M.* et al.: LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 138, 3503-3519 (2015)
11.
Lu, X.* et al.: Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. Nat. Genet. 44, 890-894 (2012)