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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Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay von Espeche, Lucía D., Sewell, Karl Ellioth, Castro, Ignacio H., Capece, Luciana, Pignataro, María Florencia, Dain, Liliana, Santos, Javier

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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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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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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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