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C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome
British Library Online Contents | 2018| -
Investigating the impact of cigarette smoking behaviours on DNA methylation patterns in adolescence
British Library Online Contents | 2018| -
African genetic diversity provides novel insights into evolutionary history and local adaptations
British Library Online Contents | 2018| -
A systematic review of genome-wide research on psychotic experiences and negative symptom traits: new revelations and implications for psychiatry
British Library Online Contents | 2018| -
Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells
British Library Online Contents | 2018| -
Deep learning of genomic variation and regulatory network data
British Library Online Contents | 2018| -
The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes
British Library Online Contents | 2018| -
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders
British Library Online Contents | 2018| -
Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects
British Library Online Contents | 2018| -
Downregulation of Survivin contributes to cell-cycle arrest during postnatal cardiac development in a severe spinal muscular atrophy mouse model
British Library Online Contents | 2018| -
TorsinA dysfunction causes persistent neuronal nuclear pore defects
British Library Online Contents | 2018| -
Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin
British Library Online Contents | 2018| -
Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice
British Library Online Contents | 2018| -
Interplay between FMRP and lncRNA TUG1 regulates axonal development through mediating SnoN–Ccd1 pathway
British Library Online Contents | 2018| -
Nuclear localization and phosphorylation modulate pathological effects of alpha-synuclein
British Library Online Contents | 2018| -
Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation
British Library Online Contents | 2018| -
Testicular MTHFR deficiency may explain sperm DNA hypomethylation associated with high dose folic acid supplementation
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| -
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration
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| -
Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia
British Library Online Contents | 2018| -
A plausibly causal functional lupus-associated risk variant in the STAT1–STAT4 locus
British Library Online Contents | 2018| -
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| -
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function
British Library Online Contents | 2018| -
Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation
British Library Online Contents | 2018| -
Cordycepin activates autophagy through AMPK phosphorylation to reduce abnormalities in Machado–Joseph disease models
British Library Online Contents | 2018| -
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration
British Library Online Contents | 2018| -
Differentially expressed microRNAs in the aqueous humor of patients with exfoliation glaucoma or primary open-angle glaucoma
British Library Online Contents | 2018| -
Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation
British Library Online Contents | 2018| -
Neurodegenerative diseases have genetic hallmarks of autoinflammatory disease
British Library Online Contents | 2018| -
Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures
British Library Online Contents | 2018| -
Beyond heritability: improving discoverability in imaging genetics
British Library Online Contents | 2018| -
How the most common mitochondrial DNA mutation (m.3243A>G) vanishes from leukocytes: a mathematical model
British Library Online Contents | 2018| -
A tri-serine cluster within the topoisomerase IIα-interaction domain of the BLM helicase is required for regulating chromosome breakage in human cells
British Library Online Contents | 2018| -
Differentially expressed microRNAs in the aqueous humor of patients with exfoliation glaucoma or primary open-angle glaucoma
British Library Online Contents | 2018| -
NAFLD risk alleles in PNPLA3, TM6SF2, GCKR and LYPLAL1 show divergent metabolic effects
British Library Online Contents | 2018| -
Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome
British Library Online Contents | 2018|
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