<i>GJB</i>2 and <i>GJB</i>6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

by Paula Buonfiglio, Carlos D. Bruque, Leonela Luce, Florencia Giliberto, Vanesa Lotersztein, Sebastián Menazzi, Bibiana Paoli, Ana Belén Elgoyhen, Viviana Dalamón
Published 2020-10-01

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

by Melisa Taboas, Luciana Gómez Acuña, María Florencia Scaia, Carlos D Bruque, Noemí Buzzalino, Mirta Stivel, Nora R Ceballos, Liliana Dain
Published 2014-01-01

Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects

by Marisol Delea, Lucía D. Espeche, Carlos D. Bruque, María Paz Bidondo, Lucía S. Massara, Jaen Oliveri, Paloma Brun, Viviana R. Cosentino, Celeste Martinoli, Norma Tolaba, Claudina Picon, María Eugenia Ponce Zaldua, Silvia Ávila, Viviana Gutnisky, Myriam Perez, Lilian Furforo, Noemí D. Buzzalino, Rosa Liascovich, Boris Groisman, Mónica Rittler, Sandra Rozental, Pablo Barbero, Liliana Dain
Published 2018-09-01