Fernández, Cecilia Soledad

PRODUCCION CIENTÍFICO TECNOLÓGICA

Mostrando ítems 1-6 de 6

Artículo CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

Simonetti, Leandro ; Bruque, Carlos David ; Fernández, Cecilia Soledad ; Benavides Mori, Belén; Delea, Marisol; Kolomenski, Jorge Emilio ; Espeche, Lucia Daniela; Buzzalino, Noemí Delia; Nadra, Alejandro Daniel ; Dain, Liliana Beatriz (Wiley-liss, Div John Wiley & Sons Inc, 2018-01)
Artículo Distribution of FMR1 and FMR2 repeats in 2 Argentinean patients with primary ovarian 3 insufficiency

Espeche, Lucía Daniela; Chiauzzi, Violeta Alicia ; Ferder, Ianina Claudia ; Arrar, Mehrnoosh ; Solari, Andrea Paula; Bruque, Carlos David ; Delea, Marisol; Belli, Susana; Fernández, Cecilia Soledad ; Buzzalino, Noemí Delia; Charreau, Eduardo Hernan ; Dain, Liliana Beatriz (MDPI AG, 2017-08)
Artículo Genetic characterization of a large cohort of Argentine 21-hydroxylase deficiency

Fernández, Cecilia Soledad ; Taboas, Melisa Ivana ; Bruque, Carlos David ; Benavides Mori, Belén; Belli, Susana Haydee; Stivel, Mirta; Oneto, Adriana Marcela; Pasqualini, Titania; Delea, Marisol; Espeche, Lucia Daniela; Kolomenski, Jorge Emilio ; Alba, Liliana; Buzzalino, Noemí Delia; Dain, Liliana Beatriz (Wiley Blackwell Publishing, Inc, 2020-07)
Artículo Isolated p.H62L mutation in the CYP21A2 gene in a simple virilizing 21-hydroxylase deficient patient

Taboas, Melisa Ivana ; Fernández, Cecilia Soledad ; Belli, Susana Haydee; Buzzalino, Noemí Delia; Alba, Liliana; Dain, Liliana Beatriz (Hindawi Publishing Corporation, 2013-06)
Artículo Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency

Fernández, Cecilia Soledad ; Bruque, Carlos David ; Taboas, Melisa Ivana ; Buzzalino, Noemí Delia; Espeche, Lucia Daniela; Pasqualini, Titania; Charreau, Eduardo Hernan ; Alba, Liliana G.; Ghiringhelli, Pablo Daniel ; Dain, Liliana Beatriz (Humana Press, 2015-07)
Artículo Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

Bruque, Carlos David ; Delea, Marisol; Fernández, Cecilia Soledad ; Orza, Juan Victoriano; Taboas, Melisa Ivana ; Buzzalino, Noemi; Espeche, Lucia; Solari, Andrea; Luccerini, Veronica; Alba, Liliana; Nadra, Alejandro Daniel ; Dain, Liliana Beatriz (Nature Publishing Group, 2016-12)

Mostrando ítems 1-6 de 6