FALETRA, FLAVIO

FALETRA, FLAVIO

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Dettaglio

FALETRA, FLAVIO 

Universita' degli Studi di Trieste 

Collaboratori 

Pubblicazioni

Risultati 1 - 20 di 32 (tempo di esecuzione: 0.001 secondi).

TitoloData di pubblicazioneAutoriFile
1Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype2015FALETRA, FLAVIO  ; VOZZI, DIEGO  ; MARCUZZI, ANNALISA  ; VALENCIC, ERICA  ; PISCIANZ, ELISA  ; BIANCO, ANNA MONICA ROSARIA  ; GIRARDELLI, MARTINA  ; LOGANES, CLAUDIA  ; TOMMASINI, ALBERTO    riservati
2A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation2010FABRETTO, ANTONELLA  ; SHARDLOW, ALISON  ; FALETRA, FLAVIO  ; GASPARINI, PAOLO  -
3A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome2016FALETRA, FLAVIO  ; BUSSANI, ROSSANA  ; ZANDONÀ, LORENZO  ; STAMPALIJA, TAMARA    riservati
4A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet2020TORNESE, GIANLUCA  ; PATTI, GIUSEPPA  ; PELLEGRIN, MARIA CHIARA  ; COSTA, PAOLA  ; FALETRA, FLAVIO  ; BARBI, EGIDIO    Open Access
5The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma2018VERZEGNASSI, FEDERICO  ; VALENCIC, ERICA  ; KIREN, VALENTINA  ; GIURICI, NAGUA  ; BIANCO, ANNA MONICA ROSARIA  ; MARCUZZI, ANNALISA  ; VOZZI, DIEGO  ; TOMMASINI, ALBERTO  ; FALETRA, FLAVIO    riservati
6Contribution of SNP arrays in diagnosis of deletion 2p11.2-p122012FABRETTO, ANTONELLA  ; FALETRA, FLAVIO  ; SKABAR, ALDO  ; GASPARINI, PAOLO  ; PECILE, VANNA  -
7Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003)2020VALENCIC, ERICA  ; PISCIANZ, ELISA  ; TOMMASINI, ALBERTO  ; FALETRA, FLAVIO  ; TODARO, FRANCESCA  ; Badolato, Raffaele  -
8Developmental dyslexia and its complex genetic puzzle2015ATHANASAKIS, EMMANOUIL  ; FALETRA, FLAVIO  ; LICASTRO, DANILO  ; GERBINO, WALTER  ; LONCIARI, ISABELLA  ;  Open Access
9Evidence of Inbreeding Depression on Human Height2012PIRASTU, Nicola  ; ROBINO, ANTONIETTA  ; GIROTTO, GIORGIA  ; FALETRA, FLAVIO  ; D'ADAMO, ADAMO PIO  ; GASPARINI, PAOLO  ; -
10Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.2014FALETRA, FLAVIO  ; FALETRA, FLAVIO  ; BELCARO, CHIARA  ; VOZZI, DIEGO  ; -
11Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes2019PISCIANZ, ELISA  ; CONVERSANO, ESTER  ; FALETRA, FLAVIO  ; TOMMASINI, ALBERTO  ; VALENCIC, ERICA    riservati
12First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population?2020FANTASIA, ILARIA  ; STAMPALIJA, TAMARA  ; QUADRIFOGLIO, MATTEO  ; FALETRA, FLAVIO  -
13Genetic analysis of Italian patients with congenital tufting enteropathy2016FALETRA, FLAVIO  ; GASPARINI, PAOLO  ;  riservati
14Genomic 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 Variations2018MORGAN, ANNA  ; LENARDUZZI, STEFANIA  ; CAPPELLANI, STEFANIA  ; PECILE, VANNA  ; MORGUTTI, MARCELLO  ; BRUMAT, MARCO  ; LA BIANCA, MARTINA  ; FALETRA, FLAVIO  ; GASPARINI, PAOLO  ; GIROTTO, GIORGIA    Open Access
15Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report2020FALETRA, FLAVIO  ; MORGAN, ANNA  ; GIROTTO, GIORGIA    riservati
16Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations2011FALETRA, FLAVIO  ; GASPARINI, PAOLO  ; PENSIERO, STEFANO  ; -
17Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome2012ATHANASAKIS, EMMANOUIL  ; GASPARINI, PAOLO  ; FALETRA, FLAVIO  -
18Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population2020MORGAN, ANNA  ; SPEDICATI, BEATRICE  ; GRAZIANO, CLARA  ; FALETRA, FLAVIO  ; GIROTTO, GIORGIA  -
19Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism2013FALETRA, FLAVIO  ; DEVESCOVI, RAFFAELLA  ; GASPARINI, PAOLO  ; PECILE, VANNA  -
20Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss2019MEZZAVILLA, MASSIMO  ; FALETRA, FLAVIO  ; GASPARINI, PAOLO  ; GIROTTO, GIORGIA    riservati
 
 
 
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