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 populationsA novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing lossGenome-wide association study identifies 74 loci associated with educational attainment.Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.Consanguinity and hereditary hearing loss in Qatar.Genetic landscape of populations along the Silk Road: admixture and migration patterns.The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.Rare coding variants and X-linked loci associated with age at menarche.PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss.Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.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.Mevalonate kinase deficiency and IBD: shared genetic background.Corrigendum: Rare coding variants and X-linked loci associated with age at menarche.Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.One-shot genetic analysis in monolithic Silicon/Pyrex microdevices.Putative modifier genes in mevalonate kinase deficiency.Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.Target sequencing approach intended to discover new mutations in non-syndromic intellectual disabilityMicroarray and Large-Scale In Silico–Based Identification of Genes Functionally Related to Haptoglobin and/or HemopexinEffect of materials for micro-electro-mechanical systems on PCR yield
P50
Q28267893-C1F248A3-593C-4BDA-88D2-2EA85E3ECFC7Q28646221-955EC4EA-F0CE-4A6B-9662-F1C93B1050B3Q30355401-84173249-5E6F-495F-AD9C-D816481D3627Q30446247-BF7C5826-D711-48E3-8C0E-A06B04B36C28Q34046898-037B36B8-1704-4725-B810-7E83E1759A44Q34405611-B67AA93A-DBE3-491D-9AD0-F3E36AA0E9B2Q34430731-88882A3C-BEAC-4D32-A928-3163B3BD2AF4Q34712618-6CFB548E-F140-4076-88CB-008508214C45Q35149661-62A86606-1770-43B9-9CA3-02223031BE76Q35961979-CB93C456-7363-4A6B-8EFA-CF59DD4936BFQ36392900-DE8E75A0-056F-41BB-AF8C-0A56CEF0A82CQ36883362-7903310B-D777-42E5-A41F-6F611C2A801DQ39062039-62E11B3F-3D6B-487E-8B41-BB2DAC5F2DBEQ40614943-64391C7D-037E-4A57-A869-A299F23515CBQ40722392-CDB8511E-2C12-4656-B7DC-021B02D5F354Q41346472-38AE9DAE-0241-40B7-AD02-59AD0939B4C9Q42751140-26A3A6C9-EA43-44AF-AE74-637F9EE03D42Q43102129-6DF3EFAD-32C8-4B1D-BFA7-E8C0B255B6ACQ43934927-FBF6EA99-A274-470F-93BE-6FE0B4286E43Q48533762-761B0900-667B-4F40-B548-198A827E6D94Q51538977-28E8C921-F62C-4CC0-A174-9568B0221048Q53158669-55409C4B-14F3-4832-A183-125B3E054546Q54274139-61217095-70AF-47E1-8CE3-8583225816A5Q54488239-DB774FD7-107B-4708-A429-1AFE9DEBBDC3Q57720097-8B25192D-056A-47E6-8632-DC14ABB3AB6AQ59617585-7FB7378E-1D1D-477A-A4CB-0E1EE7AED397Q83863851-3265C5A6-ABCF-4EC5-892C-B5800A16E061
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Diego Vozzi
@ast
Diego Vozzi
@en
Diego Vozzi
@es
Diego Vozzi
@nl
type
label
Diego Vozzi
@ast
Diego Vozzi
@en
Diego Vozzi
@es
Diego Vozzi
@nl
altLabel
diego vozzi
@en
prefLabel
Diego Vozzi
@ast
Diego Vozzi
@en
Diego Vozzi
@es
Diego Vozzi
@nl
P106
P21
P31
P496
0000-0002-2902-8184