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Pubblicazioni
HUMAN MOLECULAR GENETICS
Rivista
Codice:
E078692
ISSN:
0964-6906
Dati Generali
Dati Generali
Pubblicazioni (36)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
82-FIP, a novel FMRP (Fragile X Mental Retardation Protein) interacting protein, shows a cell cycle-dependent intracellular localization
Articolo
A Direct Gene Transfer Strategy Via Brain Internal Capsule Reverses The Biochemical Defect In Tay-Sachs Disease
Articolo
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype
Articolo
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
Articolo
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
Articolo
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
Articolo
A structural approach to understanding the iron-binding properties of phylogenetically different frataxins
Articolo
Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary.
Articolo
Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice
Articolo
Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta
Articolo
C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3{epsilon).
Articolo
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia
Articolo
Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
Articolo
Cellular dysfunction of LQT5-mink mutants: abnormalities of Iks, Ikr and trafficking in Long QT Syndrome
Articolo
Characterization of a recurrent 15q24 microdeletion syndrome.
Articolo
Disruption of the ASTN2/tTRIM32 locus at 9p33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Articolo
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype
Articolo
Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
Articolo
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.
Articolo
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.
Articolo
Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.
Articolo
LSD1/KDM1A mutations associated to a newly described form of intellectual disability impair demethylase activity and binding to transcription factors
Articolo
Messanger RNA processing is altered in autosomal dominant leukodystrophy
Articolo
Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
Articolo
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease
Articolo
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
Articolo
Mutation of SALL2 causes recessive ocular coloboma in humans and mice
Articolo
Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling.
Articolo
Mutations in TITF-1 are associated with benign hereditary chorea
Articolo
Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus
Articolo
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia
Articolo
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.
Articolo
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.
Articolo
The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta
Articolo
The mouse Midl gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region
Articolo
Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations
Articolo
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