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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Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients von Minutolo, Carolina, Nadra, Alejandro D, Fernández, Cecilia, Taboas, Melisa, Buzzalino, Noemí, Casali, Bárbara, Belli, Susana, Charreau, Eduardo H, Alba, Liliana, Dain, Liliana

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Mechanism of action of novel naphthofuranquinones on rat liver microsomal peroxidation von Elingold, Igal, Taboas, Melisa I., Casanova, Marta B., Galleano, Mónica, Silva, Raphael S.F., Menna-Barreto, Rubem F.S., Ventura Pinto, Antonio, de Castro, Solange L., Costa, Lidia E., Dubin, Marta

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Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient von Dain, Liliana, Alba, Liliana, Buzzalino, Noemi, Belli, Susana, Taboas, Melisa, Fernández, Cecilia

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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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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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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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ANALISIS DE ANOMALIAS CROMOSOMICAS, DESBALANCES GENÓMICOS Y VARIANTES DE SECUENCIA COMO CAUSA DE CARDIOPATÍAS CONGÉNITAS von Delea, Marisol, Massara, Soledad, Bruque, Carlos David, Espeche, Lucía Daniela, Taboas, Melisa Ivana, Barbero, Pablo, Bidondo, María Paz, Liascovich, Rosa, Groisman, Boris, Cosentino, Viviana, Martinoli, Celeste, Furforo, Lilian, Ritler, Mónica, Kolomenski, Emilio, Oliveri, Jaen, Brun, Paloma, Rozental, Sandra, Dain, Liliana Beatriz

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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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Análisis de anomalías cromosómicas, desbalances genómicos y variantes de secuencia como causa de cardiopatías congénitas von Marisol Delea, Soledad Massara, Carlos David Bruque, Lucía Daniela Espeche, Melisa Ivana Taboas, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Boris Groisman, Viviana Cosentino, Celeste Martinoli, Lilian Furforo, Mónica Ritler, Emilio Kolomenski, Jaen Oliveri, Paloma Brun, Sandra Rozental, Liliana Beatriz Dain

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