Buzzalino, Noemí Delia

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 Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene

Taboas, Melisa Ivana ; Gómez Acuña, Luciana Inés ; Scaia, María Florencia ; Bruque, Carlos David ; Buzzalino, Noemí Delia; Stivel, M.; Ceballos, Nora Raquel ; Dain, Liliana Beatriz (Public Library of Science, 2014-02)
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 Genetic imbalances in argentinean patients with congenital conotruncal heart defects

Delea, Marisol; Espeche, Lucía D.; Bruque, Carlos David ; Bidondo, María Paz; Massara, Lucía S.; Oliveri, Jaen Natalia; Brun, Paloma Laura; Cosentino, Viviana Raquel; Martinoli, Celeste; Tolaba, Norma Noemi; Picon, Claudina; Ponce Zaldua, María Eugenia; Ávila, Silvia; Gutnisky, Viviana; Perez, Myriam; Furforo, Lilian; Buzzalino, Noemí Delia; Liascovich, Rosa ; Groisman, Boris ; Rittler, Mónica; Rozental, Sandra; Barbero, Pablo Miguel; Dain, Liliana Beatriz (MDPI, 2018-09)
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)

Mostrando ítems 1-6 de 6