Genetics and genomic medicine in Argentina

por Cotignola, Javier, Rozental, Sandra, Buzzalino, Noemí, Dain, Liliana
Publicado 2019

Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient

por Taboas, Melisa, Fernández, Cecilia, Belli, Susana, Buzzalino, Noemi, Alba, Liliana, Dain, Liliana
Publicado 2013

Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene

por Taboas, Melisa, Gómez Acuña, Luciana, Scaia, María Florencia, Bruque, Carlos D., Buzzalino, Noemí, Stivel, Mirta, Ceballos, Nora R., Dain, Liliana
Publicado 2014

Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

por Minutolo, Carolina, Nadra, Alejandro D., Fernández, Cecilia, Taboas, Melisa, Buzzalino, Noemí, Casali, Bárbara, Belli, Susana, Charreau, Eduardo H., Alba, Liliana, Dain, Liliana
Publicado 2011

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

por Bruque, Carlos D., Delea, Marisol, Fernández, Cecilia S., Orza, Juan V., Taboas, Melisa, Buzzalino, Noemí, Espeche, Lucía D., Solari, Andrea, Luccerini, Verónica, Alba, Liliana, Nadra, Alejandro D., Dain, Liliana
Publicado 2016

Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency

por Espeche, Lucía Daniela, Chiauzzi, Violeta, Ferder, Ianina, Arrar, Mehrnoosh, Solari, Andrea Paula, Bruque, Carlos David, Delea, Marisol, Belli, Susana, Fernández, Cecilia Soledad, Buzzalino, Noemí Delia, Charreau, Eduardo Hernán, Dain, Liliana Beatriz
Publicado 2017

Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects

por Delea, Marisol, Espeche, Lucía D., Bruque, Carlos D., Bidondo, María Paz, Massara, Lucía S., Oliveri, Jaen, Brun, Paloma, Cosentino, Viviana R., Martinoli, Celeste, Tolaba, Norma, Picon, Claudina, Ponce Zaldua, María Eugenia, Ávila, Silvia, Gutnisky, Viviana, Perez, Myriam, Furforo, Lilian, Buzzalino, Noemí D., Liascovich, Rosa, Groisman, Boris, Rittler, Mónica, Rozental, Sandra, Barbero, Pablo, Dain, Liliana
Publicado 2018