FALETRA, FLAVIO

FALETRA, FLAVIO  

Universita' degli Studi di Trieste  

Collaboratori  

Mostra records
Risultati 1 - 20 di 51 (tempo di esecuzione: 0.03 secondi).
Titolo Data di pubblicazione Autori File
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 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 +
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.
A Child With Self-Improving Hypotonia: Look at the Skin! 1-gen-2020 Conversano, EsterAgrusti, AnnaConti, RosauraMagnolato, AndreaBruno, IreneBarbi, EgidioFaletra, Flavio +
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. +
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 +
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes 1-gen-2019 Piscianz E.Conversano E.Faletra F.Tommasini A.Valencic E. +
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 1-gen-2020 Fantasia I.Stampalija T.Quadrifoglio M.Faletra F. +
Genetic analysis of Italian patients with congenital tufting enteropathy 1-gen-2016 FALETRA, FLAVIOGASPARINI, PAOLO +
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge 1-gen-2022 Costa, PaolaFaletra, FlavioBianco, Anna M.La Bianca, MartinaAthanasakis, Emmanouild’Adamo, Adamo P.Carrozzi, MarcoGasparini, Paolo +
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 +
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 1-gen-2022 Bottega R.Persico I.Faleschini M.Valencic E.d'Adamo A. P.Tommasini A.Faletra F.Savoia A. +