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NATURE GENETICS
Rivista
Codice:
E116310
ISSN:
1061-4036
Dati Generali
Dati Generali
Pubblicazioni (53)
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Ordina Pubblicazioni:
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A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10
Articolo
A conserved sorting-associated protein is mutant in chorea-acanthocytosis RID C-2505-2009 RID A-4495-2010
Articolo
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
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A map of open chromatin in human pancreatic islets
Articolo
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
Articolo
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6)
Articolo
BMP6 orchestrates iron metabolism
Articolo
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
Articolo
Common variants at five new loci associated with early-onset inflammatory bowel disease
Articolo
Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia
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Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.
Articolo
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
Articolo
Defining the role of common variation in the genomic and biological architecture of adult human height
Articolo
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis
Articolo
EFFICIENT LENTIVIRAL TRANSDUCTION OF LIVER REQUIRES CELL CYCLING IN VIVO
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Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci
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Erratum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 (Nature Genetics (2011) 43 (246-252))
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Erratum: Mutations in GDI1 are responsible for X-linked non-specific mental retardation (Nature Genetics (1998) 19 (134-139))
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Erratum: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study(Nature Genetics (2009) 41 (216220))
Articolo
GENE TRANSDUCTION BY LENTIVIRAL VECTORS IS LIMITED BY NUCLEAR TRANSLOCATION OF THE GENOME AND IS RESCUED BY INCORPORATION OF CIS-ACTING SEQUENCES FOR THE HIV-1 POL GENE
Articolo
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
Articolo
Genome-wide association identifies multiple ulcerative colitis susceptibility loci
Articolo
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
Articolo
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer
Articolo
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
Articolo
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
Articolo
Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita
Articolo
HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants
Articolo
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2
Articolo
High-density mapping of the MHC identifies a shared role for HLA-DRB1∗01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis
Articolo
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
Articolo
Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes
Articolo
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching
Articolo
Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele
Articolo
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease
Articolo
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
Articolo
MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome
Articolo
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Articolo
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
Articolo
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
Articolo
Ocular Albinism: evidence for a defect in an intracellular signal transduction system
Articolo
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants
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Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.
Articolo
The 1+Million Genomes Minimal Dataset for Cancer
Articolo
The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22
Articolo
The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes
Articolo
The lack of chromosomal protein HMG1 does not disrupt cell growth, but causes lethal hypoglycaemia in newborn mice
Articolo
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy
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Transcript imaging of human T helper cell development using oligonucleotide arrays
Articolo
Translating genes into health.
Articolo
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study
Articolo
t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway
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