FALETRA, FLAVIO

FALETRA, FLAVIO  

Universita' degli Studi di Trieste  

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Risultati 1 - 20 di 56 (tempo di esecuzione: 0.024 secondi).
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 +
A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome 1-gen-2016 FALETRA, FLAVIOBUSSANI, ROSSANAZANDONÀ, LORENZOStampalija, Tamara +
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet 1-gen-2020 Gianluca TorneseGiuseppa PattiMaria Chiara PellegrinPaola CostaFlavio FaletraEgidio Barbi +
A Child With Self-Improving Hypotonia: Look at the Skin! 1-gen-2020 Conversano, EsterAgrusti, AnnaConti, RosauraMagnolato, AndreaBruno, IreneBarbi, EgidioFaletra, Flavio +
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
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease 1-gen-2021 Morgan A.La Bianca M.Faletra F.Girotto G. +
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 +
An unusual diagnosis for an usual test 1-gen-2020 Andrea TrombettaVanessa MigliarinoFlavio FaletraEgidio BarbiGianluca Tornese
Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling 1-gen-2022 Feresin, AgneseStampalija, TamaraCappellani, StefaniaBussani, RossanaFaletra, FlavioBosio, BarbaraArdisia, Carmela +
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures 1-gen-2022 Spedicati, BeatriceMorgan, AnnaRubinato, ElisaSantin, AuroraFaletra, FlavioGirotto, Giorgia +
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies 1-gen-2021 Valencic, EricaDa Lozzo, PriscaTornese, GianlucaGhirigato, ElenaPiscianz, ElisaFaletra, FlavioTaddio, AndreaTommasini, AlbertoMagnolato, Andrea +
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12 1-gen-2012 Fabretto, AntonellaFaletra, FlavioSkabar, AldoGasparini, PaoloPecile, Vanna +
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 1-gen-2021 Valencic E.Piscianz E.Tommasini A.Faletra F.Todaro F.Badolato R. +
Could the MED13 mutations manifest as a Kabuki-like syndrome? 1-gen-2021 De Nardi L.Faletra F.D'Adamo A. P.Bianco A. M. R.Athanasakis E.Barbi E. +
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. +
Developmental dyslexia and its complex genetic puzzle 1-gen-2015 ATHANASAKIS, EMMANOUILFALETRA, FLAVIOLICASTRO, DANILOGERBINO, WALTERLONCIARI, ISABELLA +
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 1-gen-2021 Faletra F.Garcia Garcia M. E.Gasparini P. +
Evidence of Inbreeding Depression on Human Height 1-gen-2012 PIRASTU, NicolaROBINO, ANTONIETTAGIROTTO, GIORGIAFALETRA, FLAVIOD'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 +
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 1-gen-2022 Faletra, FlavioSpedicati, BeatriceGasparini, Paolo +