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Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder
Oxford University Press | 2016| -
Effect of genetic background on the dystrophic phenotype in mdx mice
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| -
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
Oxford University Press | 2016| -
Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity
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| -
Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood
Oxford University Press | 2012| -
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| -
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome
Oxford University Press | 2016| -
Shorter telomere length in Europeans than in Africans due to polygenetic adaptation
Oxford University Press | 2016| -
Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation
Oxford University Press | 2016| -
Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy
Oxford University Press | 2015| -
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis
Oxford University Press | 2015| -
PARK2 enhancement is able to compensate mitophagy alterations found in sporadic Alzheimer's disease
Oxford University Press | 2016| -
Genome-wide association study identifies three novel loci for type 2 diabetes
Oxford University Press | 2014| -
Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila
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| -
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription
Oxford University Press | 2016| -
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension
Oxford University Press | 2015| -
WNT/{beta}-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production
Oxford University Press | 2014| -
The PINK1, synphilin-1 and SIAH-1 complex constitutes a novel mitophagy pathway
Oxford University Press | 2016| -
A novel common variant in DCST2 is associated with length in early life and height in adulthood
Oxford University Press | 2015| -
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
Oxford University Press | 2015| -
Functional screening in Drosophila identifies Alzheimer's disease susceptibility genes and implicates Tau-mediated mechanisms
Oxford University Press | 2014| -
Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome
Oxford University Press | 2016| -
Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice
Oxford University Press | 2016| -
Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment
Oxford University Press | 2014| -
Epigenetics meets metabolomics: an epigenome-wide association study with blood serum metabolic traits
Oxford University Press | 2014| -
Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS
Oxford University Press | 2015| -
A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Menieres disease
Oxford University Press | 2016| -
Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain
Oxford University Press | 2015| -
An enhanced Q175 knock-in mouse model of Huntington disease with higher mutant huntingtin levels and accelerated disease phenotypes
Oxford University Press | 2016| -
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy
Oxford University Press | 2016| -
CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1
Oxford University Press | 2014| -
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome
Oxford University Press | 2016| -
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery
Oxford University Press | 2015|
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