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Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder
Oxford University Press | 2016| -
Shorter telomere length in Europeans than in Africans due to polygenetic adaptation
Oxford University Press | 2016| -
Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity
Oxford University Press | 2015| -
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension
Oxford University Press | 2015| -
Effect of genetic background on the dystrophic phenotype in mdx mice
Oxford University Press | 2016| -
The PINK1, synphilin-1 and SIAH-1 complex constitutes a novel mitophagy pathway
Oxford University Press | 2016| -
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
Oxford University Press | 2016| -
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function
Oxford University Press | 2016| -
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome
Oxford University Press | 2016| -
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription
Oxford University Press | 2016| -
Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation
Oxford University Press | 2015| -
Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS
Oxford University Press | 2015| -
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis
Oxford University Press | 2015| -
Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation
Oxford University Press | 2016| -
PARK2 enhancement is able to compensate mitophagy alterations found in sporadic Alzheimer's disease
Oxford University Press | 2016| -
HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder
Oxford University Press | 2016| -
A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3
Oxford University Press | 2015| -
LncRNA-HOST2 regulates cell biological behaviors in epithelial ovarian cancer through a mechanism involving microRNA let-7b
Oxford University Press | 2015| -
Whole exome sequencing identifies lncRNA GAS8-AS1 and LPAR4 as novel papillary thyroid carcinoma driver alternations
Oxford University Press | 2016| -
Two classes of ovarian primordial follicles exhibit distinct developmental dynamics and physiological functions
Oxford University Press | 2014| -
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy
Oxford University Press | 2016| -
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration
Oxford University Press | 2016| -
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship
Oxford University Press | 2016| -
Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood
Oxford University Press | 2012| -
Genome-wide association study identifies multiple loci associated with bladder cancer risk
Oxford University Press | 2014| -
Progress and prospects of gene therapy clinical trials for the muscular dystrophies
Oxford University Press | 2016| -
14-3-3 Proteins regulate mutant LRRK2 kinase activity and neurite shortening
Oxford University Press | 2016| -
Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways
Oxford University Press | 2016| -
Novel locus including FGF21 is associated with dietary macronutrient intake
Oxford University Press | 2013| -
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
Oxford University Press | 2015| -
Rab11 modulates {alpha}-synuclein-mediated defects in synaptic transmission and behaviour
Oxford University Press | 2015| -
The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function
Oxford University Press | 2013| -
Epigenetics meets metabolomics: an epigenome-wide association study with blood serum metabolic traits
Oxford University Press | 2014| -
NLRP3 inflammasome activation drives bystander cone photoreceptor cell death in a P23H rhodopsin model of retinal degeneration
Oxford University Press | 2016| -
Selective disruption of Tcf7l2 in the pancreatic {beta} cell impairs secretory function and lowers {beta} cell mass
Oxford University Press | 2015| -
Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms
Oxford University Press | 2016|
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