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mutational analysis
14
"Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders" (2017) González-Morón, D.;Vishnopolska, S.;Consalvo, D. (...)Kauffman, M.A. PLoS ONE. 12(9)
"Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations" (2017) Luce, L.N.; Abbate, M.; Cotignola, J.; Giliberto, F. Oncotarget. 8(1):145-155
"Structural Insights into the HWE Histidine Kinase Family: The Brucella Blue Light-Activated Histidine Kinase Domain" (2016) Rinaldi, J.;Arrar, M.;Sycz, G. (...)Goldbaum, F.A. Journal of Molecular Biology. 428(6):1165-1179
"Acute intermittent porphyria in argentina: An update" (2015) Cerbino, G.N.;Gerez, E.N.;Varela, L.S. (...)Rossetti, M.V. BioMed Research International. 2015
"Mutational analysis of kinetic partitioning in protein folding and protein-DNA binding" (2011) Sánchez, I.E.; Ferreiro, D.U.; De Prat Gay, G. Protein Engineering, Design and Selection. 24(1-2):179-184
"Mutational analysis of kinetic partitioning in protein folding and protein-DNA binding" (2011) Sánchez, I.E.; Ferreiro, D.U.; De Prat Gay, G. Protein Engineering, Design and Selection. 24(1-2):179-184
"Genetic and biochemical studies in Argentinean patients with variegate porphyria" (2008) Rossetti, M.V.;Granata, B.X.;Giudice, J. (...)Batlle, A. BMC Medical Genetics. 9
"Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence " (2007) Pasqualini, T.;Alonso, G.;Tomasini, R. (...)Dain, L. Medicina. 67(3):253-261
"Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients" (2005) Dalamón, V.;Béhèran, A.;Diamante, F. (...)Elgoyhen, A.B. Hearing Research. 207(1-2):43-49
"Analysis of the highly efficient pre-mRNA processing region HX1 of Trypanosoma cruzi" (2005) Ben-Dov, C.P.; Levin, M.J.; Vázquez, M.P. Molecular and Biochemical Parasitology. 140(1):97-105
"Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene " (1999) Iglesias, D.M.;Manrique, M.;Arrizurieta, E.E. (...)Bernath, V.A. Medicina. 59(2):133-137