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Mostrati risultati da 1 a 20 di 37
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 +
Analysis of DEFB1 regulatory SNPs in cystic fibrosis patients from North-Eastern Italy. 1-gen-2010 SEGAT, LUDOVICAATHANASAKIS, EMMANOUILCROVELLA, SERGIO +
A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family 1-gen-2010 PIRASTU, NicolaATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. 1-gen-2010 L. SegatATHANASAKIS, EMMANOUILCROVELLA, SERGIO +
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL 1-gen-2011 Faletra, FlavioAthanasakis, EmmanouilMinen, FedericoFornasier, FedericoGasparini, Paolo +
High-throughput Genotyping Robot-assisted Method for Mutation Detection in Patients With Hypertrophic Cardiomyopathy. 1-gen-2011 ATHANASAKIS, EMMANOUILSINAGRA, GIANFRANCO +
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients 1-gen-2011 CROVELLA, SERGIOSEGAT, LUDOVICAATHANASAKIS, EMMANOUILMORGUTTI, MARCELLOGASPARINI, PAOLO +
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 +
Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells. 1-gen-2011 D'ADAMO, ADAMO PIOCROVELLA, SERGIOATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
Molecular epidemiology of Usher syndrome in Italy 1-gen-2011 VOZZI, DIEGOATHANASAKIS, EMMANOUILFABRETTO, ANTONELLALICASTRO, DANILOTESTA, FRANCESCOMARTINI, ALESSANDROGASPARINI, PAOLO +
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. 1-gen-2012 ATHANASAKIS, EMMANOUILMORGAN, ANNAGASPARINI, PAOLO +
A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family. 1-gen-2012 D'ADAMO, ADAMO PIOATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
Genetics of Food Preferences: A First View from Silk Road Populations 1-gen-2012 PIRASTU, NicolaROBINO, ANTONIETTALANZARA, CARMELAATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures 1-gen-2012 Licastro, DaniloVozzi, DiegoAthanasakis, EmmanouilFabretto, AntonellaGasparini, Paolo +
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome 1-gen-2012 Athanasakis, E.Gasparini, P.Faletra, F. +
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. +
Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene 1-gen-2013 D'ADAMO, ADAMO PIOATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
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 +
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 +
Mostrati risultati da 1 a 20 di 37
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