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301–350 of 8,844 hits
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Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway
British Library Online Contents | 2017| -
Advancing psychiatric genetics through dissecting heterogeneity
British Library Online Contents | 2017| -
Genetic modifiers of Mendelian disease: Huntington’s disease and the trinucleotide repeat disorders
British Library Online Contents | 2017| -
Alternative splicing in the C-terminal tail of Cav2.1 is essential for preventing a neurological disease in mice
British Library Online Contents | 2017| -
A flow cytometry-based screen identifies MBNL1 modulators that rescue splicing defects in myotonic dystrophy type I
British Library Online Contents | 2017| -
Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion
British Library Online Contents | 2017| -
LRRK2(I2020T) functional genetic interactors that modify eye degeneration and dopaminergic cell loss in Drosophila
British Library Online Contents | 2017| -
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten
British Library Online Contents | 2017| -
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans
British Library Online Contents | 2017| -
Cyclodextrin has conflicting actions on autophagy flux in vivo in brains of normal and Alzheimer model mice
British Library Online Contents | 2017| -
Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus
British Library Online Contents | 2017| -
Cell identity bookmarking through heterogeneous chromatin landscape maintenance during the cell cycle
British Library Online Contents | 2017| -
MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation
British Library Online Contents | 2017| -
Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome
British Library Online Contents | 2017| -
Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis
British Library Online Contents | 2017| -
Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation
British Library Online Contents | 2017| -
Post-transcriptional regulation of FUS and EWS protein expression by miR-141 during neural differentiation
British Library Online Contents | 2017| -
Optic neuropathies: the tip of the neurodegeneration iceberg
British Library Online Contents | 2017| -
Tea and coffee consumption in relation to DNA methylation in four European cohorts
British Library Online Contents | 2017| -
Genotype–phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants
British Library Online Contents | 2017| -
Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing
British Library Online Contents | 2017| -
A population-based analysis of germline BAP1 mutations in melanoma
British Library Online Contents | 2017| -
The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells
British Library Online Contents | 2017| -
Therapeutic potential of AAV-mediated MMP-3 secretion from corneal endothelium in treating glaucoma
British Library Online Contents | 2017| -
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
British Library Online Contents | 2017| -
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration
British Library Online Contents | 2018| -
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay
British Library Online Contents | 2018| -
Polycystin-1 regulates bone development through an interaction with the transcriptional coactivator TAZ
British Library Online Contents | 2018| -
C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome
British Library Online Contents | 2018| -
Development and application of CRISPR/Cas9 technologies in genomic editing
British Library Online Contents | 2018| -
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis–Cincinnati type
British Library Online Contents | 2018| -
Predominant patterns of splicing evolution on human, chimpanzee and macaque evolutionary lineages
British Library Online Contents | 2018| -
Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma
British Library Online Contents | 2018| -
MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion
British Library Online Contents | 2018| -
Self-assembly of FUS through its low-complexity domain contributes to neurodegeneration
British Library Online Contents | 2018| -
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
British Library Online Contents | 2018| -
Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders
British Library Online Contents | 2018| -
Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription
British Library Online Contents | 2018| -
Increased expression of microRNA-15a and microRNA-15b in skeletal muscle from adult offspring of women with diabetes in pregnancy
British Library Online Contents | 2018| -
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
British Library Online Contents | 2018| -
Polycystin-1 regulates bone development through an interaction with the transcriptional coactivator TAZ
British Library Online Contents | 2018| -
Cordycepin activates autophagy through AMPK phosphorylation to reduce abnormalities in Machado–Joseph disease models
British Library Online Contents | 2018| -
Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses
British Library Online Contents | 2018| -
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)
British Library Online Contents | 2018| -
C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome
British Library Online Contents | 2018|
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