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Mostrati risultati da 1 a 20 di 37
Titolo Data di pubblicazione Autori File
Microarray and large-scale in silico-based identification of genes functionally related to Haptoglobin and/or Hemopexin. 1-gen-2006 VOZZI, DIEGOGASPARINI, PAOLO +
Molecular epidemiology of Usher syndrome in Italy 1-gen-2011 VOZZI, DIEGOATHANASAKIS, EMMANOUILFABRETTO, ANTONELLALICASTRO, DANILOTESTA, FRANCESCOMARTINI, ALESSANDROGASPARINI, PAOLO +
Organo-silane coated substrates for DNA purification 1-gen-2011 Vozzi, D.Gasparini, P. +
Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures 1-gen-2012 Licastro, DaniloVozzi, DiegoAthanasakis, EmmanouilFabretto, AntonellaGasparini, Paolo +
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss 1-gen-2013 GIROTTO, GIORGIAD'ADAMO, ADAMO PIOVOZZI, DIEGOMORGAN, ANNAGASPARINI, PAOLO +
Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss 1-gen-2013 GIROTTO, GIORGIAVOZZI, DIEGOLICASTRO, DANILOVUCKOVIC, DRAGANAGASPARINI, PAOLO +
Alagille syndrome: A new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA 1-gen-2013 Vozzi, D.Licastro, D.Athanasakis, E.Gasparini, P.Fabretto, A. +
Consanguinity and Hereditary Hearing Loss in Qatar 1-gen-2014 GIROTTO, GIORGIAMEZZAVILLA, MASSIMOVUCKOVIC, DRAGANAVOZZI, DiegoGASPARINI, PAOLO +
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection 1-gen-2014 ATHANASAKIS, EMMANOUILVOZZI, DIEGOMORGAN, ANNAD'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability. 1-gen-2014 GANDIN, ILARIAFALETRA, FLAVIOPECILE, VANNABELCARO, CHIARAVOZZI, DiegoD'ADAMO, ADAMO PIO +
Mevalonate kinase deficiency and IBD: shared genetic background 1-gen-2014 GIRARDELLI, MARTINAVOZZI, DIEGOCROVELLA, SERGIOMARCUZZI, ANNALISA +
Genetic landscape of populations along the Silk Road: admixture and migration patterns 1-gen-2014 MEZZAVILLA, MASSIMOVOZZI, DiegoPIRASTU, NicolaGIROTTO, GIORGIAD'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients 1-gen-2014 VOZZI, DIEGOMORGAN, ANNAVUCKOVIC, DRAGANAGASPARINI, PAOLOGIROTTO, GIORGIA +
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability 1-gen-2015 MORGAN, ANNAGANDIN, ILARIABELCARO, CHIARADAL COL, VALENTINALAURINI, ERIKPRICL, SABRINAD'ADAMO, ADAMO PIOFALETRA, FLAVIOVOZZI, Diego +
PSIP1/LEDGF: A new gene likely involved in sensorineural progressive hearing loss 1-gen-2015 GIROTTO, GIORGIAMORGAN, ANNAVOZZI, DiegoRUBINATO, ELISADI STAZIO, MARIATERESAPENSIERO, STEFANOGASPARINI, PAOLO +
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. 1-gen-2015 BIANCO, ANNA MONICA ROSARIAFALETRA, FLAVIOVOZZI, DIEGOGIRARDELLI, MARTINATOMMASINI, ALBERTOZAULI, GIORGIOMARCUZZI, ANNALISA +
Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar 1-gen-2015 MEZZAVILLA, MASSIMOVOZZI, DIEGOGIROTTO, GIORGIAGASPARINI, PAOLO +
Directional dominance on stature and cognition in diverse human populations 1-gen-2015 GANDIN, ILARIACONCAS, MARIA PINAVUCKOVIC, DRAGANAROBINO, ANTONIETTAVOZZI, DiegoPIRASTU, NicolaGIROTTO, GIORGIAGASPARINI, PAOLO +
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 1-gen-2015 FALETRA, FLAVIOVOZZI, DiegoMARCUZZI, ANNALISAVALENCIC, ERICAPISCIANZ, ELISABIANCO, ANNA MONICA ROSARIAGIRARDELLI, MARTINALOGANES, CLAUDIATOMMASINI, ALBERTO +
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair 1-gen-2015 ROBINO, ANTONIETTAVUCKOVIC, DRAGANABARBIERI, CATERINA MARIAGANDIN, ILARIAGIROTTO, GIORGIAPIRASTU, NicolaVOZZI, DIEGOEaston, Douglas FGASPARINI, PAOLO +
Mostrati risultati da 1 a 20 di 37
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