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The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6
British Library Online Contents | 2018| -
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons
British Library Online Contents | 2018| -
Excess LINC complexes impair brain morphogenesis in a mouse model of recessive TOR1A disease
British Library Online Contents | 2018| -
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
British Library Online Contents | 2018| -
MIR137 schizophrenia-associated locus controls synaptic function by regulating synaptogenesis, synapse maturation and synaptic transmission
British Library Online Contents | 2018| -
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism
British Library Online Contents | 2018| -
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency
British Library Online Contents | 2018| -
De novo mutations implicate novel genes in systemic lupus erythematosus
British Library Online Contents | 2018| -
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| -
Cyclodextrin has conflicting actions on autophagy flux in vivo in brains of normal and Alzheimer model mice
British Library Online Contents | 2017| -
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
British Library Online Contents | 2017| -
Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia
British Library Online Contents | 2017| -
Gene expression profiling of puberty-associated genes reveals abundant tissue and sex-specific changes across postnatal development
British Library Online Contents | 2017| -
Hepatic Tm6sf2 overexpression affects cellular ApoB-trafficking, plasma lipid levels, hepatic steatosis and atherosclerosis
British Library Online Contents | 2017| -
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype
British Library Online Contents | 2017| -
Cell-type deconvolution from DNA methylation: a review of recent applications
British Library Online Contents | 2017| -
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin
British Library Online Contents | 2017| -
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome
British Library Online Contents | 2017| -
Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis
British Library Online Contents | 2017| -
SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss
British Library Online Contents | 2017| -
Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels
British Library Online Contents | 2017| -
Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain
British Library Online Contents | 2017| -
Conditional eQTL analysis reveals allelic heterogeneity of gene expression
British Library Online Contents | 2017| -
GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci
British Library Online Contents | 2017| -
Fragile X related protein 1 (FXR1P) regulates proliferation of adult neural stem cells
British Library Online Contents | 2017| -
Inhibiting sphingosine kinase 2 mitigates mutant Huntingtin-induced neurodegeneration in neuron models of Huntington disease
British Library Online Contents | 2017| -
Myo18b is essential for sarcomere assembly in fast skeletal muscle
British Library Online Contents | 2017| -
Confirmation of five novel susceptibility loci for systemic lupus erythematosus (SLE) and integrated network analysis of 82 SLE susceptibility loci
British Library Online Contents | 2017| -
Novel UCHL1 mutations reveal new insights into ubiquitin processing
British Library Online Contents | 2017| -
Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate
British Library Online Contents | 2017| -
Epigenetic changes in preterm birth placenta suggest a role for ADAMTS genes in spontaneous preterm birth
British Library Online Contents | 2018| -
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry
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| -
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry
British Library Online Contents | 2018| -
Drug screening for human genetic diseases using iPSC models
British Library Online Contents | 2018| -
Physician preparedness for big genomic data: a review of genomic medicine education initiatives in the United States
British Library Online Contents | 2018| -
Big data collision: the internet of things, wearable devices and genomics in the study of neurological traits and disease
British Library Online Contents | 2018| -
The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5
British Library Online Contents | 2018| -
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy
British Library Online Contents | 2018| -
Microglia activation in Niemann–Pick disease, type C1 is amendable to therapeutic intervention
British Library Online Contents | 2018| -
Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome
British Library Online Contents | 2018| -
Increased polyamines as protective disease modifiers in congenital muscular dystrophy
British Library Online Contents | 2018| -
Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model
British Library Online Contents | 2018| -
Leveraging lung tissue transcriptome to uncover candidate causal genes in COPD genetic associations
British Library Online Contents | 2018| -
A genetic modifier suggests that endurance exercise exacerbates Huntington's disease
British Library Online Contents | 2018| -
Zinc finger protein 274 regulates imprinted expression of transcripts in Prader-Willi syndrome neurons
British Library Online Contents | 2018| -
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay
British Library Online Contents | 2018| -
Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia
British Library Online Contents | 2018|
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