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A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature 1-gen-2011 Faletra, FlavioDevescovi, RaffaellaPecile, VannaFabretto, AntonellaCarrozzi, MarcoGasparini, Paolo
De novo 6.9Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features 1-gen-2012 Fabretto, AntonellaPerrone, Maria DoloresSkabar, AldoPecile, VannaGasparini, Paolo +
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12 1-gen-2012 Fabretto, AntonellaFaletra, FlavioSkabar, AldoGasparini, PaoloPecile, Vanna +
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism 1-gen-2013 Faletra, FlavioDevescovi, RaffaellaGasparini, PaoloPecile, Vanna +
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 +
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology 1-gen-2015 NICCHIA, ELENAGRECO, CHIARADE ROCCO, DANIELAPECILE, VANNAPALLAVICINI, AlbertoTORELLI, LUCIOSAVOIA, ANNA +
Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features = Klinična in Molekularna Citogenetska Obravnava Otrok Z Razvojnim Zaostankom in Displastičnimi Znaki 1-gen-2015 BATTELINO, TADEJPECILE, VANNACLEVA, LISAGASPARINI, PAOLO +
A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning 1-gen-2017 Tornese, GPecile, V +
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature 1-gen-2017 TRAVAN, LAURANAVIGLIO, SAMUELEDE CUNTO, ANGELAPECILE, VANNACAPPELLANI, STEFANIAFALETRA, FLAVIO +
Genomic 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 Variations 1-gen-2018 Morgan, AnnaLenarduzzi, StefaniaCappellani, StefaniaPecile, VannaMorgutti, MarcelloBrumat, MarcoLa Bianca, MartinaFaletra, FlavioGasparini, PaoloGirotto, Giorgia +
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference 1-gen-2018 Fabretto, AntonellaPecile, VannaGasparini, PaoloCarrozzi, Marco +
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4 1-gen-2019 Bottega R.Perrone M. D.Vecchiato K.Taddio A.Pecile V.Said H. M. +
Fetal RHD detection from circulating cell-free fetal DNA in maternal plasma: validation of a diagnostic kit using automatic extraction and frozen DNA 1-gen-2019 Stampalija T.Fantasia I.Pecile V.De Angelis V. +
An online tool for fetal fraction prediction based on direct size distribution analysis of maternal cell-free DNA 1-gen-2020 Bedon, LucaVuch, JosefMeroni, GermanaPecile, VannaLicastro, Danilo +
Retrospective study 2005-2015 of all cases of fetal death occurred at ≥23 gestational weeks, in Friusli Venezia Giulia, Italy 1-gen-2020 Barbone, FabioCagnacci, AngeloCanton, MelaniaComar, ManolaDe Seta, FrancescoDi Loreto, CarlaDriul, LorenzaGiornelli, RobertaMaso, GianpaoloPecile, VannaRicci, GiuseppeRonfani, LucaSandrigo, ElisaSmiroldo, SilviaSorz, AliceStampalija, TamaraAlberico, Salvatore +
Mostrati risultati da 1 a 15 di 15
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