ArTS Archivio della ricerca di Trieste

Sfoglia per Autore  FALETRA, FLAVIO

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Mostrati risultati da 1 a 20 di 61
Titolo Data di pubblicazione Autori File
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation 1-gen-2010 Fabretto, AntonellaSHARDLOW, ALISONFaletra, FlavioGasparini, Paolo +
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations 1-gen-2011 Faletra, FlavioGasparini, PaoloPensiero, Stefano +
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL 1-gen-2011 Faletra, FlavioAthanasakis, EmmanouilMinen, FedericoFornasier, FedericoGasparini, Paolo +
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 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature 1-gen-2012 Perrone, M. D.Faletra, F.Gasparini, P. +
Evidence of Inbreeding Depression on Human Height 1-gen-2012 PIRASTU, NicolaROBINO, ANTONIETTAGIROTTO, GIORGIAFALETRA, FLAVIOD'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis 1-gen-2012 Faletra, FlavioTommasini, A.Cleva, L.Gasparini, P. +
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome 1-gen-2012 Athanasakis, E.Gasparini, P.Faletra, F. +
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 +
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 +
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 +
Developmental dyslexia and its complex genetic puzzle 1-gen-2015 ATHANASAKIS, EMMANOUILFALETRA, FLAVIOLICASTRO, DANILOGERBINO, WALTERLONCIARI, ISABELLA +
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 +
A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome 1-gen-2016 FALETRA, FLAVIOBUSSANI, ROSSANAZANDONÀ, LORENZOStampalija, Tamara +
Genetic analysis of Italian patients with congenital tufting enteropathy 1-gen-2016 FALETRA, FLAVIOGASPARINI, PAOLO +
Type i interferon-mediated autoinflammation due to DNase II deficiency 1-gen-2017 Tesser, AlessandraVOLPI, STEFANOBianco, Anna MonicaFaletra, FlavioMarcuzzi, AnnalisaPastore, SerenaPiscianz, ElisaStocco, GabrieleTaddio, AndreaValencic, EricaVozzi, DiegoTommasini, Alberto +
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 +
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma 1-gen-2018 Verzegnassi F.Valencic E.Kiren V.Giurici N.Bianco A. M.Marcuzzi A.Vozzi D.Tommasini A.Faletra F.
Mostrati risultati da 1 a 20 di 61
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