Skip to Main Content (Press Enter)
×
Home
Corsi
Insegnamenti
Professioni
Persone
Pubblicazioni
Strutture
IT
EN
☰
UNIFIND
|
UNIFIND
unipv.it
IT
EN
×
Home
Corsi
Insegnamenti
Professioni
Persone
Pubblicazioni
Strutture
☰
Pubblicazioni
NATURE GENETICS
Rivista
Codice:
E116310
ISSN:
1061-4036
Dati Generali
Dati Generali
Pubblicazioni (63)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
Articolo
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.
Articolo
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Articolo
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Articolo
A variant in the CD209 promoter is associated with severity of dengue disease
Articolo
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
Articolo
Achondrogenesis type 1B is caused by mutations in the diastrophic dysplasia sulfate transporter gene
Articolo
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Articolo
Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics
Articolo
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Articolo
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (Nature Genetics, (2019), 51, 4, (649-658), 10.1038/s41588-019-0372-4)
Articolo
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (Nature Genetics, (2020), 52, 5, (473-481), 10.1038/s41588-020-0615-4)
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
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis.
Articolo
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Articolo
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Articolo
Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Articolo
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
Articolo
CXorf6 is a causative gene for hypospadias.
Articolo
Characterization of greater middle eastern genetic variation for enhanced disease gene discovery
Articolo
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Articolo
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus
Articolo
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
Articolo
Comprehensive genetic study of the insulin resistance marker TG:HDL-C in the UK Biobank
Articolo
Comprehensive molecular characterization of mitochondrial genomes in human cancers
Articolo
Defining the role of common variation in the genomic and biological architecture of adult human height
Articolo
Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer
Articolo
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Articolo
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Articolo
Genetic evidence for an exit of Homo sapiens sapiens from Africa via East Africa.
Articolo
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy
Articolo
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
Articolo
Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates
Articolo
Genome-wide meta-analyses identify multiple loci associated with smoking behavior
Articolo
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
Articolo
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
Articolo
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Articolo
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching
Articolo
Kallmann syndrome due to a translocation resulting in an X/Y fusion gene.
Articolo
Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes.
Articolo
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosome
Articolo
Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex
Articolo
Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function.
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 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 MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Articolo
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Articolo
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Articolo
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
Articolo
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Articolo
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Articolo
New susceptibility locus for coronary artery disease on chromosome 3q22.3
Articolo
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.
Articolo
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
Articolo
R-spondin1 is essential in sex determination, skin differentiation and malignancy
Articolo
Recessive gene disruptions in autism spectrum disorder
Articolo
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxine.
Articolo
The landscape of viral associations in human cancers
Articolo
Transcriptional regulator PRDM12 is essential for human pain perception
Articolo
Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity.
Articolo
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
Articolo
No Results Found
«
‹
{pageNumber}
›
»
{startItem} - {endItem} di {itemsNumber}
5 per pagina
10 per pagina
30 per pagina
vedi tutti
