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heterozygote
34
"Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina" (2017) Bañares, V.G.;Corral, P.;Medeiros, A.M. (...)Schreier, L.E. Journal of Clinical Lipidology. 11(2):524-531
"Red blood cell aquaporin-1 expression is decreased in hereditary spherocytosis" (2016) Crisp, R.L.;Maltaneri, R.E.;Vittori, D.C. (...)Nesse, A. Annals of Hematology. 95(10):1595-1601
"Red blood cell aquaporin-1 expression is decreased in hereditary spherocytosis" (2016) Crisp, R.L.;Maltaneri, R.E.;Vittori, D.C. (...)Nesse, A. Annals of Hematology. 95(10):1595-1601
"Complementary sex determination in the parasitic wasp Diachasmimorpha longicaudata" (2015) Paladino, L.C.;Muntaabski, I.;Lanzavecchia, S. (...)Bressa, M.J. PLoS ONE. 10(3)
"Acute intermittent porphyria in argentina: An update" (2015) Cerbino, G.N.;Gerez, E.N.;Varela, L.S. (...)Rossetti, M.V. BioMed Research International. 2015
"Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm" (2014) Luce, L.N.;Ottaviani, D.;Ferrer, M. (...)Giliberto, F. Muscle and Nerve. 49(2):249-256
"Dynamics of genetic variability in Anastrepha fraterculus (Diptera: Tephritidae) during adaptation to laboratory rearing conditions" (2014) Parreño, M.A.;Scannapieco, A.C.;Remis, M.I. (...)Lanzavecchia, S.B. BMC Genetics. 15
"Cytogenetic study in a mutant of triatoma infestans (hemiptera: Reduviidae) carrying a spontaneous autosomal fusion and an extra chromosome" (2012) Poggio, M.G.; Gaspe, M.S.; Papeschi, A.G.; Bressa, M.J. Cytogenetic and Genome Research. 139(1):44-51
"Functional Characterization of TLR4 +3725 G/C Polymorphism and Association with Protection against Overweight" (2012) Penas-Steinhardt, A.;Barcos, L.S.;Belforte, F.S. (...)Leskow, F.C. PLoS ONE. 7(12)
"HFE gene mutations in patients with altered iron metabolism in Argentina" (2009) Rossetti, M.V.;Méndez, M.;Afonso, S. (...)Parera, V.E. Cellular and Molecular Biology. 55(2):31-35
"Properties of mutated murine α4β2 nicotinic receptors linked to partial epilepsy" (2008) Lipovsek, M.;Plazas, P.;Savino, J. (...)Katz, E. Neuroscience Letters. 434(2):165-169
"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
"Production of the main surface antigen of Toxoplasma gondii in tobacco leaves and analysis of its antigenicity and immunogenicity" (2005) Clemente, M.;Curilovic, R.;Sassone, A. (...)Mentaberry, A.N. Molecular Biotechnology. 30(1):41-49
"Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF)" (2004) Sundblad, V.;Chiauzzi, V.A.;Escobar, M.E. (...)Charreau, E.H. Molecular and Cellular Endocrinology. 222(1-2):53-59
"Involvement of bone morphogenetic protein 4 (BMP-4) in pituitary prolactinoma pathogenesis through a Smad/estrogen receptor crosstalk" (2003) Páez-Pereda, M.;Giacomini, D.;Refojo, D. (...)Arzt, E. Proceedings of the National Academy of Sciences of the United States of America. 100(3):1034-1039
"Classical and nonclassical 21-hydroxylase deficiency: A molecular study of Argentine patients" (2002) Dain, L.B.;Buzzalino, N.D.;Oneto, A. (...)Alba, L.G. Clinical Endocrinology. 56(2):239-245
"Classical and nonclassical 21-hydroxylase deficiency: A molecular study of Argentine patients" (2002) Dain, L.B.;Buzzalino, N.D.;Oneto, A. (...)Alba, L.G. Clinical Endocrinology. 56(2):239-245
"Permanent translocation heterozygosity in dioecious Baccharis coridifolia DC. (Asteraceae)" (2002) Hunziker, J.H.; Wulff, A.F.; Escobar, A. Hereditas. 137(2):132-139
"Prevalence of Three Prothrombotic Polymorphisms: Factor V G1691A, Factor II G20210A and Methylenetetrahydrofolate Reductase (MTHFR) C 677T in Argentina" (2000) Genoud, V.;Castañon, M.;Annichino-Bizzacchi, J. (...)Kordich, L. Thrombosis Research. 100(3):127-131
"Mating system parameters in species of genus Prosopis (Leguminosae)" (2000) Bessega, C.;Ferreyra, L.;Julio, N. (...)Vilardi, J.C. Hereditas. 132(1):19-27
"Allosteric transition of erythrocyte alkaline phosphatase from duchenne muscular dystrophy (DMD) patients and duchenne muscular dystrophy carriers (Homo sapiens)" (1988) Goldemberg, A.L.;García, A.M.;Fernández, H. (...)Trucco, R.E. International Journal of Biochemistry. 20(7):703-706
"Allosteric transition of erythrocyte alkaline phosphatase from duchenne muscular dystrophy (DMD) patients and duchenne muscular dystrophy carriers (Homo sapiens)" (1988) Goldemberg, A.L.;García, A.M.;Fernández, H. (...)Trucco, R.E. International Journal of Biochemistry. 20(7):703-706
"Orientation and segregation of Robertsonian trivalents in Dichroplus pratensis (Acrididae)." (1988) Bidau, C.J.; Mirol, P.M. Genome / National Research Council Canada = Génome / Conseil national de recherches Canada. 30(6):947-955
"Orientation and segregation of Robertsonian trivalents in Dichroplus pratensis (Acrididae)." (1988) Bidau, C.J.; Mirol, P.M. Genome / National Research Council Canada = Génome / Conseil national de recherches Canada. 30(6):947-955
"Severe hemorrhagic tendency in heterozygous α2-antiplasmin deficiency" (1985) Kordich, L.; Feldman, L.; Porterie, P.; Lago, O. Thrombosis Research. 40(5):645-651