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Filtri: Autore è Athanasakis, Emmanouil [Clear All Filters]
A 3'UTR SNP in NLRP3 gene is associated with susceptibility to HIV-1 infection. J Acquir Immune Defic Syndr 2010;54(3):236-40..
Abnormal expression of leiomyoma cytoskeletal proteins involved in cell migration. Oncol Rep 2016;35(5):3094-100..
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. Eur J Hum Genet 2011;19(5):593-6..
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A 2014;164A(1):42-7..
F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls. Clin Exp Rheumatol 2014;32(6):993-4..
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study. Pediatr Rheumatol Online J 2015;13:11..
Genetics of food preferences: a first view from silk road populations. J Food Sci 2012;77(12):S413-8..
High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy. Diagn Mol Pathol 2011;20(3):175-9..
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. PLoS One 2012;7(8):e43799..
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6..
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2013;34(1-2):115-7..
The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias. Oncotarget 2014;5(24):12635-45..