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HUMAN MOLECULAR GENETICS ONLINE
Rivista
Codice:
E223454
ISSN:
1460-2083
Dati Generali
Dati Generali
Pubblicazioni (18)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
Articolo
Disease-associated c-MYC downregulation in human disorders of transcriptional regulation
Articolo
Effect Of Diazoxide on Friedreich Ataxia Models.
Articolo
Endoplasmic Reticulum-Mitochondria Interface Is Perturbed in Park2 Knockout Mice and Patients with Park2 Mutations
Articolo
Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein
Articolo
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss
Articolo
Identification of the Syrian hamster cardiomyopathy gene.
Articolo
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error
Articolo
Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells.
Articolo
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kB activation
Articolo
Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors.
Articolo
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Articolo
Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb.
Articolo
Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy
Articolo
Protein instability associated with AARS1 and MARS1 mutations causes Trichothiodystrophy
Articolo
Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice
Articolo
Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder
Articolo
The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons
Articolo
No Results Found
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