Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches von Buonfiglio, Paula I., Bruque, Carlos D., Lotersztein, Vanesa, Luce, Leonela, Giliberto, Florencia, Menazzi, Sebastián, Francipane, Liliana, Paoli, Bibiana, Goldschmidt, Ernesto, Elgoyhen, Ana Belén, Dalamón, Viviana

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Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene von Taboas, Melisa, Gómez Acuña, Luciana, Scaia, María Florencia, Bruque, Carlos D, Buzzalino, Noemí, Stivel, Mirta, Ceballos, Nora R, Dain, Liliana

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CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants von Simonetti, Leandro, Bruque, Carlos D., Fernández, Cecilia S., Benavides‐Mori, Belén, Delea, Marisol, Kolomenski, Jorge E., Espeche, Lucía D., Buzzalino, Noemí D., Nadra, Alejandro D., Dain, Liliana

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Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat von Ferder, Ianina C, Espeche, Lucía D, Bruque, Carlos D, Parborell, Fernanda, Tesone, Marta, Dain, Liliana

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An update on genetic variants of the NKX2‐5 von Kolomenski, Jorge E., Delea, Marisol, Simonetti, Leandro, Fabbro, Mónica C., Espeche, Lucía D., Taboas, Melisa, Nadra, Alejandro D., Bruque, Carlos D., Dain, Liliana

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Genetic characterization of a large cohort of Argentine 21‐hydroxylase Deficiency von Fernández, Cecilia S., Taboas, Melisa, Bruque, Carlos D., Benavides‐Mori, Belén, Belli, Susana, Stivel, Mirta, Oneto, Adriana, Pasqualini, Titania, Delea, Marisol, Espeche, Lucía D., Kolomenski, Jorge E., Alba, Liliana, Buzzalino, Noemí, Dain, Liliana

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GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort von Buonfiglio, Paula, Bruque, Carlos D., Luce, Leonela, Giliberto, Florencia, Lotersztein, Vanesa, Menazzi, Sebastián, Paoli, Bibiana, Elgoyhen, Ana Belén, Dalamón, Viviana

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Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies von Massara, Lucía S., Delea, Marisol, Espeche, Lucía, Bruque, Carlos D., Oliveri, Jaen, Brun, Paloma, Furforo, Lilian, Dain, Liliana, Rozental, Sandra

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

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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease von Delea, Marisol, Massara, Lucia S, Espeche, Lucia D, Bidondo, María Paz, Barbero, Pablo, Oliveri, Jaen, Brun, Paloma, Fabro, Mónica, Galain, Micaela, Fernández, Cecilia S, Taboas, Melisa, Bruque, Carlos D, Kolomenski, Jorge E, Izquierdo, Agustín, Berenstein, Ariel, Cosentino, Viviana, Martinoli, Celeste, Vilas, Mariana, Rittler, Mónica, Mendez, Rodrigo, Furforo, Lilian, Liascovich, Rosa, Groisman, Boris, Rozental, Sandra, Dain, Liliana, On Behalf Of The Pid Acm-Cc Group

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Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects von 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

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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 von Fernández, Cecilia S., Bruque, Carlos D., Taboas, Melisa, Buzzalino, Noemí D., Espeche, Lucia D., Pasqualini, Titania, Charreau, Eduardo H., Alba, Liliana G., Ghiringhelli, Pablo D., Dain, Liliana

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Expression and characterisation of von Ferder, Ianina C., Espeche, Lucía D., Bruque, Carlos D., Parborell, Fernanda, Tesone, Marta, Dain, Liliana

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In silico and in vivo analyses of a novel variant in MYO6 identified in a family with postlingual non-syndromic hearing loss from Argentina von Buonfiglio, Paula I, Bruque, Carlos D, Salatino, Lucía, Lotersztein, Vanesa, Pace, Mariela, Grinberg, Sofia, Elgoyhen, Ana B, Plazas, Paola V, Dalamón, Viviana

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In silico and in vivo analyses of a novel variant in MYO 6 identified in a family with postlingual non-syndromic hearing loss from Argentina von Buonfiglio, Paula I, Bruque, Carlos D, Salatino, Lucía, Lotersztein, Vanesa, Pace, Mariela, Grinberg, Sofia, Elgoyhen, Ana B, Plazas, Paola V, Dalamón, Viviana

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GJB 2 and GJB 6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort von Buonfiglio, Paula, Bruque, Carlos D, Luce, Leonela, Giliberto, Florencia, Lotersztein, Vanesa, Menazzi, Sebastián, Paoli, Bibiana, Elgoyhen, Ana Belén, Dalamón, Viviana

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Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2AG Mutations of the CYP21A2 Gene von Taboas, Melisa, Gómez Acuña, Luciana, Scaia, María Florencia, Bruque, Carlos D, Buzzalino, Noemí, Stivel, Mirta, Ceballos, Nora R, Dain, Liliana

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Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene: e92181 von Taboas, Melisa, Acuna, Luciana Gomez, Scaia, Maria Florencia, Bruque, Carlos D, Buzzalino, Noemi, Stivel, Mirta, Ceballos, Nora R, Dain, Liliana

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