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Amar, Y.* et al.: Skin microbiome diversity and transcriptome profiling in patients with atopic dermatitis. Exp. Dermatol. 28, E8-E9 (2019)
Angelidis, I. et al.: An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics. Nat. Commun. 10:963 (2019)
Quarta, C. et al.: Functional identity of hypothalamic melanocortin neurons depends on Tbx3. Nat. Metab. 1, 222-235 (2019)
Sachs, S. et al.: Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans. Am. J. Physiol. Endocrinol. Metab. 316, E866-E879 (2019)
Wagner, M. et al.: Mitochondrial DNA mutation analysis from exome sequencing - a more holistic approach in diagnostics of suspected mitochondrial disease. J. Inherit. Metab. Dis., accepted (2019)
Westphal, D.S. et al.: Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing. Clin. Genet. 95, 582-589 (2019)
Cheng, Y. et al.: Prediction of adipose browning capacity by systematic integration of transcriptional profiles. Cell Rep. 23, 3112-3125 (2018)
Danhauser, K. et al.: Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axaonal neuropathy. Am. J. Hum. Genet. 103, 817-825 (2018)
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)
Reinthaler, E.M.* et al.: TPP2 mutation associated with sterile brain inflammation mimicking MS. Neurol. Genet. 4:e285 (2018)
Keipert, S. et al.: Long-term cold adaptation does not require FGF21 or UCP1. Cell Metab. 26, 437-446.e5 (2017)
Kremer, L.S. et al.: Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat. Commun. 8:15824 (2017)
Kuechler, A.* et al.: Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: A recognizable condition. Eur. J. Hum. Genet. 25, 183-191 (2017)
Quarta, C. et al.: Molecular integration of incretin and glucocorticoid action reverses immunometabolic dysfunction and obesity. Cell Metab. 26, 620-632.e6 (2017)
Umair, M.* et al.: Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. Eur. J. Hum. Genet. 25, 960-965 (2017)
Umair, M.* et al.: Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3. Pediatr. Res. 82, 753-758 (2017)
Umair, M. et al.: Homozygous XYLT2 variants as a cause of spondyloocular syndrome. Clin. Genet. 93, 913-918 (2017)
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)
Haack, T.B. et al.: Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy. Am. J. Hum. Genet. 99, 735-743 (2016)
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)