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251–300 of 8,844 hits
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Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy
British Library Online Contents | 2018| -
Acid ceramidase inhibition ameliorates α-synuclein accumulation upon loss of GBA1 function
British Library Online Contents | 2018| -
A genome-wide association study of IgM antibody against phosphorylcholine: shared genetics and phenotypic relationship to chronic lymphocytic leukemia
British Library Online Contents | 2018| -
The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex
British Library Online Contents | 2018| -
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy
British Library Online Contents | 2017| -
Dysregulation of chromatin remodelling complexes in amyotrophic lateral sclerosis
British Library Online Contents | 2017| -
Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3
British Library Online Contents | 2017| -
Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA)
British Library Online Contents | 2017| -
Mdm2 mediates FMRP- and Gp1 mGluR-dependent protein translation and neural network activity
British Library Online Contents | 2017| -
Amyotrophic lateral sclerosis-related mutant superoxide dismutase 1 aggregates inhibit 14-3-3-mediated cell survival by sequestration into the JUNQ compartment
British Library Online Contents | 2017| -
Loss of native α-synuclein multimerization by strategically mutating its amphipathic helix causes abnormal vesicle interactions in neuronal cells
British Library Online Contents | 2017| -
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage
British Library Online Contents | 2017| -
A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript
British Library Online Contents | 2017| -
Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences
British Library Online Contents | 2017| -
A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome
British Library Online Contents | 2017| -
Pathophysiological analyses of periventricular nodular heterotopia using gyrencephalic mammals
British Library Online Contents | 2017| -
Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos
British Library Online Contents | 2017| -
Progranulin regulates lysosomal function and biogenesis through acidification of lysosomes
British Library Online Contents | 2017| -
KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5
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| -
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling
British Library Online Contents | 2017| -
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
British Library Online Contents | 2017| -
Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide
British Library Online Contents | 2017| -
Novel degenerative and developmental defects in a zebrafish model of mucolipidosis type IV
British Library Online Contents | 2017| -
Context-specific effects of genetic variants associated with autoimmune disease
British Library Online Contents | 2017| -
Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape
British Library Online Contents | 2017| -
7,8-dihydroxyflavone ameliorates cognitive and motor deficits in a Huntingtons disease mouse model through specific activation of the PLC?1 pathway
British Library Online Contents | 2017| -
Tea and coffee consumption in relation to DNA methylation in four European cohorts
British Library Online Contents | 2017| -
SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss
British Library Online Contents | 2017| -
Evidence that phosphorylated ubiquitin signaling is involved in the etiology of Parkinson’s disease
British Library Online Contents | 2017| -
Spatial-temporal transcriptional dynamics of long non-coding RNAs in human brain
British Library Online Contents | 2017| -
Immune dysregulation may contribute to disease pathogenesis in spinal muscular atrophy mice
British Library Online Contents | 2017| -
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa
British Library Online Contents | 2017| -
Neutrophil-mediated IL-6 receptor trans-signaling and the risk of chronic obstructive pulmonary disease and asthma
British Library Online Contents | 2017| -
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia
British Library Online Contents | 2017| -
DNMT1 mutations found in HSANIE patients affect interaction with UHRF1 and neuronal differentiation
British Library Online Contents | 2017| -
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family
British Library Online Contents | 2017| -
Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction
British Library Online Contents | 2017| -
Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction
British Library Online Contents | 2017| -
KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5
British Library Online Contents | 2017| -
The liver receptor homolog-1 (LRH-1) is expressed in human islets and protects β-cells against stress-induced apoptosis
British Library Online Contents | 2017| -
SMN deficiency negatively impacts red pulp macrophages and spleen development in mouse models of spinal muscular atrophy
British Library Online Contents | 2017| -
Progranulin regulates lysosomal function and biogenesis through acidification of lysosomes
British Library Online Contents | 2017| -
Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype
British Library Online Contents | 2017| -
Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors
British Library Online Contents | 2017| -
Absence of RNase H2 triggers generation of immunogenic micronuclei removed by autophagy
British Library Online Contents | 2017| -
Enhanced tau pathology via RanBP9 and Hsp90/Hsc70 chaperone complexes
British Library Online Contents | 2017|
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