about
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repairDirectional dominance on stature and cognition in diverse human populationsGenome-wide analysis identifies 12 loci influencing human reproductive behavior.A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.Association of SNPs in LCP1 and CTIF with hearing in 11 year old children: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort and the G-EAR consortiumEstrogen-related receptor gamma and hearing function: evidence of a role in humans and mice.Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing lossSalt-inducible kinase 3, SIK3, is a new gene associated with hearing.Common variants in UMOD associate with urinary uromodulin levels: a meta-analysisGenome-wide association study identifies 74 loci associated with educational attainment.Evidence of inbreeding depression on human height.Consanguinity and hereditary hearing loss in Qatar.Genetic landscape of populations along the Silk Road: admixture and migration patterns.Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrationsThe p.Cys169Tyr variant of connexin 26 is not a polymorphismGenome-wide meta-analysis of common variant differences between men and women.PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss.Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations.Seventy-five genetic loci influencing the human red blood cellHearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways.Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar.Expression and replication studies to identify new candidate genes involved in normal hearing function.MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population.A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in Age-Related Hearing Loss.Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traitsMYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotypeAge related hearing loss and level of education: An epidemiological study on a large cohort of isolated populationsLifestyle and normal hearing function in Italy and Central Asia: The potential role of coffeeFrequency of hearing loss in a series of rural communities of five developing countries located along the Silk RoadTBL1Y: a new gene involved in syndromic hearing lossCx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathwayGenomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number VariationsNext Generation Sequencing and Animal Models Reveal as a New Gene Involved in Human Age-Related Hearing LossPublisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability
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description
hulumtuese
@sq
researcher
@en
wetenschapper
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հետազոտող
@hy
name
Giorgia Girotto
@ast
Giorgia Girotto
@en
Giorgia Girotto
@es
Giorgia Girotto
@nl
Giorgia Girotto
@sl
type
label
Giorgia Girotto
@ast
Giorgia Girotto
@en
Giorgia Girotto
@es
Giorgia Girotto
@nl
Giorgia Girotto
@sl
prefLabel
Giorgia Girotto
@ast
Giorgia Girotto
@en
Giorgia Girotto
@es
Giorgia Girotto
@nl
Giorgia Girotto
@sl
P1053
I-9452-2018
P106
P1153
35503194200
P21
P2798
P31
P3829
P496
0000-0003-4507-6589