ATHANASAKIS, EMMANOUIL

ATHANASAKIS, EMMANOUIL  

Dipartimento di Scienze della Vita  

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Risultati 1 - 20 di 38 (tempo di esecuzione: 0.108 secondi).
Titolo Data di pubblicazione Autori File
A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection 1-gen-2010 PONTILLO, AlessandraSEGAT, LUDOVICAATHANASAKIS, EMMANOUILCROVELLA, SERGIO +
A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family. 1-gen-2012 D'ADAMO, ADAMO PIOATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family 1-gen-2010 PIRASTU, NicolaATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
Abnormal expression of leiomyoma cytoskeletal proteins involved in cell migration 1-gen-2016 SCRIMIN, FEDERICAATHANASAKIS, EMMANOUILALOISIO, MICHELANGELORICCI, GIUSEPPE +
Alagille syndrome: A new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA 1-gen-2013 Vozzi, D.Licastro, D.Athanasakis, E.Gasparini, P.Fabretto, A. +
Analysis of DEFB1 regulatory SNPs in cystic fibrosis patients from North-Eastern Italy. 1-gen-2010 SEGAT, LUDOVICAATHANASAKIS, EMMANOUILCROVELLA, SERGIO +
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. 1-gen-2011 ATHANASAKIS, EMMANOUILD'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene 1-gen-2013 D'ADAMO, ADAMO PIOATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations 1-gen-2013 ATHANASAKIS, EMMANOUILGASPARINI, PAOLOVENTURA, ALESSANDRO +
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations 1-gen-2013 MIGLIORE, CHIARA MARIAATHANASAKIS, EMMANOUILMERONI, GERMANA +
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort. 1-gen-2013 ATHANASAKIS, EMMANOUILMORGAN, ANNAVENTURA, ALESSANDROGASPARINI, PAOLO +
Copy number variation, gene expression and histological localization of human beta-defensin 2 in patients with adeno-tonsillar hypertrophy 1-gen-2020 Celsi, FulvioZupin, LuisaAthanasakis, EmmanouilCrovella, Sergio +
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 +
F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls 1-gen-2014 VUCH, JOSEFATHANASAKIS, EMMANOUILSEVERINI, GIOVANNI MARIACROVELLA, SERGIOBIANCO, ANNA MONICA ROSARIATOMMASINI, ALBERTO +
Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation 1-gen-2021 Girardelli, MartinaValencic, EricaMoressa, ValentinaTesser, AlessandraPastore, SerenaSpadola, OttaviaAthanasakis, EmmanouilSeverini, Giovanni MariaTaddio, AndreaTommasini, Alberto +
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 +
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study 1-gen-2015 VUCH, JOSEFDE MARTINO, ELEONORABIANCO, ANNA MONICA ROSARIARONFANI, LUCAATHANASAKIS, EMMANOUILCROVELLA, SERGIOTADDIO, ANDREATOMMASINI, ALBERTO +
Genetics of Food Preferences: A First View from Silk Road Populations 1-gen-2012 PIRASTU, NicolaROBINO, ANTONIETTALANZARA, CARMELAATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
High-throughput Genotyping Robot-assisted Method for Mutation Detection in Patients With Hypertrophic Cardiomyopathy. 1-gen-2011 ATHANASAKIS, EMMANOUILSINAGRA, GIANFRANCO +