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NATURE GENETICS
Rivista
Codice:
E116310
ISSN:
1061-4036
Dati Generali
Dati Generali
Pubblicazioni (33)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
Articolo
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer
Articolo
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1)
Articolo
Common variants at PVT1, ATG13–AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency
Articolo
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
Articolo
Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice
Articolo
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens
Articolo
Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting
Articolo
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type i interferon signaling
Articolo
Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer
Articolo
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Articolo
Genome-wide association study identifies susceptibility loci for IgA nephropathy
Articolo
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching
Articolo
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Articolo
IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22–23
Articolo
Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes
Articolo
Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy
Articolo
Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor
Articolo
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Articolo
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Articolo
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Articolo
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Articolo
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
Articolo
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Articolo
New insights into the genetic etiology of Alzheimer’s disease and related dementias
Articolo
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
Articolo
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
Articolo
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer
Articolo
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types
Articolo
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
Articolo
The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Articolo
Titin-truncating variants affect heart function in disease cohorts and the general population
Articolo
Transferability of European-derived Alzheimer’s disease polygenic risk scores across multiancestry populations
Articolo
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