FALETRA, FLAVIO

FALETRA, FLAVIO

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Dettaglio

	
			Nome completo
		
			FALETRA, FLAVIO 	  	
			
			Afferenza
		
			Universita' degli Studi di Trieste 	  	
			
			Tipo di ruolo
		
			Collaboratori

Pubblicazioni

Risultati 1 - 20 di 35 (tempo di esecuzione: 0.001 secondi).

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	Titolo	Data di pubblicazione	Autori	File
41	Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype	2015	Lougaris, Vassilios; FALETRA, FLAVIO ; Lanzi, Gaetana; VOZZI, DIEGO ; MARCUZZI, ANNALISA ; VALENCIC, ERICA ; PISCIANZ, ELISA ; BIANCO, ANNA MONICA ROSARIA ; GIRARDELLI, MARTINA ; Baronio, Manuela; LOGANES, CLAUDIA ; Fasth, Anders; Salvini, Filippo; Trizzino, Antonino; Moratto, Daniele; Facchetti, Fabio; Giliani, Silvia; Plebani, Alessandro; TOMMASINI, ALBERTO	riservati
42	A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation	2010	FABRETTO, ANTONELLA ; SHARDLOW, ALISON ; FALETRA, FLAVIO ; Lepore, Loredana; Hladnik, Uros; GASPARINI, PAOLO	-
43	A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome	2016	Quadrifoglio, Mariachiara; FALETRA, FLAVIO ; BUSSANI, ROSSANA ; Pecile, Vanna; Zennaro, Floriana; Grasso, Alessandra; ZANDONÀ, LORENZO ; Alberico, Salvatore; STAMPALIJA, TAMARA	riservati
44	A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet	2020	TORNESE, GIANLUCA ; PATTI, GIUSEPPA ; PELLEGRIN, MARIA CHIARA ; COSTA, PAOLA ; FALETRA, FLAVIO ; Elena Faleschini; BARBI, EGIDIO	Open Access
45	The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma	2018	VERZEGNASSI, FEDERICO ; VALENCIC, ERICA ; KIREN, VALENTINA ; GIURICI, NAGUA ; BIANCO, ANNA MONICA ROSARIA ; MARCUZZI, ANNALISA ; VOZZI, DIEGO ; TOMMASINI, ALBERTO ; FALETRA, FLAVIO	riservati
46	Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12	2012	Rocca, Maria Santa; FABRETTO, ANTONELLA ; FALETRA, FLAVIO ; Carlet, Ombretta; SKABAR, ALDO ; GASPARINI, PAOLO ; PECILE, VANNA	-
47	Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003)	2020	VALENCIC, ERICA ; PISCIANZ, ELISA ; Sirchia F.; TOMMASINI, ALBERTO ; FALETRA, FLAVIO ; TODARO, FRANCESCA ; Spinelli A. M.; Badolato, Raffaele	-
48	Could the MED13 mutations manifest as a Kabuki-like syndrome?	2021	DE NARDI, LAURA ; FALETRA, FLAVIO ; D'ADAMO, ADAMO PIO ; BIANCO, ANNA MONICA ROSARIA ; ATHANASAKIS, EMMANOUIL ; Bruno I.; BARBI, EGIDIO	riservati
49	Developmental dyslexia and its complex genetic puzzle	2015	ATHANASAKIS, EMMANOUIL ; FALETRA, FLAVIO ; LICASTRO, DANILO ; GERBINO, WALTER ; LONCIARI, ISABELLA ; Faletra, Francesca	Open Access
50	Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C	2021	Pelletier F.; Perrier S.; Cayami F. K.; Mirchi A.; Saikali S.; Tran L. T.; Ulrick N.; Guerrero K.; Rampakakis E.; van Spaendonk R. M. L.; Naidu S.; Pohl D.; Gibson W. T.; Demos M.; Goizet C.; Tejera-Martin I.; Potic A.; Fogel B. L.; Brais B.; Sylvain M.; Sebire G.; Lourenco C. M.; Bonkowsky J. L.; Catsman-Berrevoets C.; Pinto P. S.; Tirupathi S.; Stromme P.; de Grauw T.; Gieruszczak-Bialek D.; Krageloh-Mann I.; Mierzewska H.; Philippi H.; Rankin J.; Atik T.; Banwell B.; Benko W. S.; Blaschek A.; Bley A.; Boltshauser E.; Bratkovic D.; Brozova K.; Cimas I.; Clough C.; Corenblum B.; Dinopoulos A.; Dolan G.; FALETRA, FLAVIO ; Fernandez R.; Fletcher J.; GARCIA GARCIA, MARIA ELOINA ; GASPARINI, PAOLO ; Gburek-Augustat J.; Gonzalez Moron D.; Hamati A.; Harting I.; Hertzberg C.; Hill A.; Hobson G. M.; Innes A. M.; Kauffman M.; Kirwin S. M.; Kluger G.; Kolditz P.; Kotzaeridou U.; La Piana R.; Liston E.; McClintock W.; McEntagart M.; McKenzie F.; Melancon S.; Misbahuddin A.; Suri M.; Monton F. I.; Moutton S.; Murphy R. P. J.; Nickel M.; Onay H.; Orcesi S.; Ozkinay F.; Patzer S.; Pedro H.; Pekic S.; Pineda Marfa M.; Pizzino A.; Plecko B.; Poll-The B. T.; Popovic V.; Rating D.; Rioux M. -F.; Rodriguez Espinosa N.; Ronan A.; Ostergaard J. R.; Rossignol E.; Sanchez-Carpintero R.; Schossig A.; Senbil N.; Sonderberg Roos L. K.; Stevens C. A.; Synofzik M.; Sztriha L.; Tibussek D.; Timmann D.; Tonduti D.; van de Warrenburg B. P.; Vazquez-Lopez M.; Venkateswaran S.; Wasling P.; Wassmer E.; Webster R. I.; Wiegand G.; Yoon G.; Rotteveel J.; Schiffmann R.; van der Knaap M. S.; Vanderver A.; Martos-Moreno G. A.; Polychronakos C.; Wolf N. I.; Bernard G.	Open Access
51	Evidence of Inbreeding Depression on Human Height	2012	Greg Gibson; Ruth McQuillan; Niina Eklund; PIRASTU, Nicola ; Maris Kuningas; Brian P. McEvoy; Tõnu Esko; Tanguy Corre; Gail Davies; Marika Kaakinen; Leo Pekka Lyytikäinen; Kati Kristiansson; Aki S. Havulinna; Martin Gögele; Veronique Vitart; Albert Tenesa; Yurii Aulchenko; Caroline Hayward; Åsa Johansson; Mladen Boban; Sheila Ulivi; ROBINO, ANTONIETTA ; Vesna Boraska; Wilmar Igl; Sarah H. Wild; Lina Zgaga; Najaf Amin; Evropi Theodoratou; Ozren Polašek; GIROTTO, GIORGIA ; Lorna M. Lopez; Cinzia Sala; Jari Lahti; Tiina Laatikainen; Inga Prokopenko; Mart Kals; Jorma Viikari; Jian Yang; Anneli Pouta; Karol Estrada; Albert Hofman; Nelson Freimer; Nicholas G. Martin; Mika Kähönen; Lili Milani; Markku Heliövaara; Erkki Vartiainen; Katri Räikkönen; Corrado Masciullo; John M. Starr; Andrew A. Hicks; Laura Esposito; Ivana Kolčić; Susan M. Farrington; Ben Oostra; Tatijana Zemunik; Harry Campbell; Mirna Kirin; Marina Pehlic; FALETRA, FLAVIO ; David Porteous; Giorgio Pistis; Elisabeth Widén; Veikko Salomaa; Seppo Koskinen; Krista Fischer; Terho Lehtimäki; Andrew Heath; Mark I. McCarthy; Fernando Rivadeneira; Grant W. Montgomery; Henning Tiemeier; Anna Liisa Hartikainen; Pamela A. F. Madden; D'ADAMO, ADAMO PIO ; Nicholas D. Hastie; Ulf Gyllensten; Alan F. Wright; Cornelia M. van Duijn; Malcolm Dunlop; Igor Rudan; GASPARINI, PAOLO ; Peter P. Pramstaller; Ian J. Deary; Daniela Toniolo; Johan G. Eriksson; Antti Jula; Olli T. Raitakari; Andres Metspalu; Markus Perola; Marjo Riitta Järvelin; André Uitterlinden; Peter M. Visscher; James F. Wilson	-
52	Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.	2014	Gandin, I; FALETRA, FLAVIO ; FALETRA, FLAVIO ; Carella, M; Pecile, V; Ferrero, Gb; Biamino, E; Palumbo, P; Palumbo, O; Bosco, P; Romano, C; BELCARO, CHIARA ; VOZZI, DIEGO ; D'Adamo, A.p.7.	-
53	Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes	2019	PISCIANZ, ELISA ; CONVERSANO, ESTER ; Bianco A. M.; FALETRA, FLAVIO ; TOMMASINI, ALBERTO ; VALENCIC, ERICA	riservati
54	First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population?	2020	FANTASIA, ILARIA ; STAMPALIJA, TAMARA ; Sirchia F.; Della Pieta I.; Ottaviani Giammarco C.; Guidolin F.; QUADRIFOGLIO, MATTEO ; Barresi V.; Travan L.; FALETRA, FLAVIO	riservati
55	Genetic analysis of Italian patients with congenital tufting enteropathy	2016	D’Apolito, Maria; Pisanelli, Daniela; FALETRA, FLAVIO ; Giardino, Ida; Gigante, Maddalena; Pettoello Mantovani, Massimo; Goulet, Olivier; GASPARINI, PAOLO ; Campanozzi, Angelo	riservati
56	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	2018	MORGAN, ANNA ; LENARDUZZI, STEFANIA ; CAPPELLANI, STEFANIA ; PECILE, VANNA ; MORGUTTI, MARCELLO ; Orzan, Eva; Ghiselli, Sara; Ambrosetti, Umberto; BRUMAT, MARCO ; Gajendrarao, Poornima; LA BIANCA, MARTINA ; FALETRA, FLAVIO ; Grosso, Enrico; Sirchia, Fabio; Sensi, Alberto; Graziano, Claudio; Seri, Marco; GASPARINI, PAOLO ; GIROTTO, GIORGIA	Open Access
57	Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report	2020	FALETRA, FLAVIO ; MORGAN, ANNA ; Ghiselli S.; Murru F. M.; GIROTTO, GIORGIA	riservati
58	Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations	2011	Abu-Amero, Khaled K.; FALETRA, FLAVIO ; GASPARINI, PAOLO ; Parentin, Fulvio; PENSIERO, STEFANO ; Alorainy, Ibrahim A.; Hellani, Ali M.; Catalano, Dario; Bosley, Thomas M.	-
59	Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome	2012	ATHANASAKIS, EMMANOUIL ; Biarnés, X.; Bonati, M. T.; GASPARINI, PAOLO ; FALETRA, FLAVIO	-
60	Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population	2020	MORGAN, ANNA ; Lenarduzzi S.; SPEDICATI, BEATRICE ; Cattaruzzi E.; Murru F. M.; Pelliccione G.; Mazza D.; Zollino M.; GRAZIANO, CLARA ; Ambrosetti U.; Seri M.; FALETRA, FLAVIO ; GIROTTO, GIORGIA	Open Access

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