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HUMAN GENETICS
Rivista
Codice:
E078681
ISSN:
0340-6717
Dati Generali
Dati Generali
Pubblicazioni (57)
Pulisci
Ordina Pubblicazioni:
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A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome
Articolo
A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia
Articolo
ALPHA-ALPHA-ALPHA-ANTI-4.-2 HAPLOTYPE AND HETEROZYGOUS BETA-O THALASSEMIA IN A SICILIAN ITALY FAMILY
Articolo
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
Articolo
Analysis of 22 deletion breakpoints in dystrophin intron 49
Articolo
Analysis of 22 deletion breakpoints in dystrophin intron 49.
Articolo
Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits
Articolo
CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes
Articolo
Common fragile sites on human chromosomes represent transcriptionally active regions: evidence from camptothecin.
Articolo
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
Articolo
DIFFERENCES IN THE LEVELS OF UV REPAIR AND IN CLINICAL SYMPTOMS IN 2 SIBS AFFECTED BY XERODERMA PIGMENTOSUM
Articolo
DNA Multiallelic systems reveal gene/longevity associations not detected by diallelic systems. The APOB locus
Articolo
EPIDEMIOLOGIC AND LINKAGE STUDIES ON HUNTINGTONS-DISEASE IN ITALY
Articolo
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.
Articolo
Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information
Articolo
Evidence for linkage equilibrium between two RFLPs associated with the human SST locus
Articolo
FREQUENCY AND MOLECULAR TYPES OF DELETIONAL ALPHA THALASSEMIA IN EGYPT
Articolo
Gene Symbol: MECP2. Disease: Rett Syndrome.
Articolo
Gene symbol: MECP2. Disease: Rett syndrome
Articolo
Gene symbol: MECP2. Disease: Rett syndrome
Articolo
Gene symbol: NOTCH3.
Articolo
Gene symbol: NOTCH3. Disease CADASIL.
Articolo
Gene symbol: NOTCH3. Disease: CADASIL.
Articolo
Gene symbol: PSEN2. Disease: Alzheimer disease.
Articolo
Genetic analysis of Down syndrome-associated heart defects in mice.
Articolo
Genetic analysis of twenty-two patients with Cockayne syndrome
Articolo
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium
Articolo
Identification of a novel T-insertion polymorphism at the DMD locus
Articolo
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA),
Articolo
Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus
Articolo
Investigating the genetic relationship between Alzheimer's disease and cancer using GWAS summary statistics
Articolo
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.
Articolo
MOLECULAR CHARACTERIZATION OF BETA-THALASSEMIA MUTATIONS IN EGYPT
Articolo
Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization
Articolo
Methylenetetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease
Articolo
Molecular screening and fetal diagnosis of beta-thalassemia in the Italian population
Articolo
New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.
Articolo
Not all isolates are equal: Linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations
Articolo
Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations.
Articolo
Novel human pathological mutations. Gene symbol: PARK2. Disease: Parkinson's disease.
Articolo
Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy.
Articolo
Ocular refraction: heritability and genome-wide search for eye morphometry traits in an isolated Sardinian population.
Articolo
Phenome-wide genetic-correlation analysis and genetically informed causal inference of amyotrophic lateral sclerosis
Articolo
Population stratification may bias analysis of PGC-1? as a modifier of age at Huntington disease motor onset.
Articolo
Population stratification may bias analysis of PGC-1alpha as amodifiewr of age at Huntington disease motor onset
Articolo
SEL1L, the human homolog of C-elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers
Articolo
SEL1L, the human homolog of C.elegans del-1:refined physical mapping gene structure and identification of polymorphic markers
Articolo
SP alpha I/65 hereditary elliptocytosis in Calabria (Southern Italy)
Articolo
SP?I/65 Hereditary Elliptocytosis in Calabria (Southern Italy)
Articolo
Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis
Articolo
Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis.
Articolo
The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples.
Articolo
Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease
Articolo
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients
Articolo
X-linked ichthyosis due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationship with Xg and cloned DNA sequences from the distal short arm of the X chromosome
Articolo
XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D MUTATION IS PRESENT IN PATIENTS AFFECTED BY TRICHOTHIODYSTROPHY WITH PHOTOSENSITIVITY
Articolo
aaaa anti-3.7 type II: a new alpha-globin gene rearrangement suggesting that the alpha-globin gene duplication could be caused by intrachromosomal recombination
Articolo
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