Browsing by Author Taboas, Melisa
Showing results 1 to 5 of 5
| Issue Date | Title | Author(s) |
|---|---|---|
| 11-Feb-2021 | Análisis de anomalías cromosómicas, desbalances genómicos y variantes de secuencia como causa de cardiopatías congénitas | Delea, Marisol ; Massara, Soledad ; Bruque, Carlos David ; Espeche, Lucía Daniela ; Taboas, Melisa ; Barbero, Pablo ; Bidondo, María Paz ; Liascovich, Rosa ; Groisman, Boris ; Cosentino, Viviana R ; Martinoli, Celeste ; Furforo, Lilian ; Ritler, Mónica ; Kolomenski, Emilio ; Oliveri, Jaen ; Brun, Paloma ; Rozental, Sandra ; Dain, Liliana |
| 25-Mar-2014 | Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene | Taboas, Melisa ; Gómez Acuña, Luciana ; Scaia, María Florencia ; Bruque, Carlos David ; Buzzalino, Noemí ; Stivel, Mirta ; Ceballos, Nora R ; Dain, Liliana |
| 10-Jul-2025 | High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing | Claps, Aldana ; Kolomenski, Emilio ; Fernández, Franco ; Macchiaroli, Natalia ; Ingravidi, Marina ; Delea, Marisol ; Fernandez, Cecilia ; Castro, Tania ; Laiseca, Julieta ; Kamenetzky, Laura ; Taboas, Melisa ; Dain, Liliana |
| Dec-2016 | Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations | Bruque, Carlos D ; Delea, Marisol ; Fernández, Cecilia ; Orza, Juan V ; Taboas, Melisa ; Buzzalino, Noemí ; Espeche, Lucía ; Solari, Andrea ; Luccerini, Verónica ; Alba, Liliana ; Nadra, Alejandro D. ; Dain, Liliana |
| 2011 | Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients | Minutolo, Carolina ; Nadra, Alejandro D. ; Fernández, Cecilia ; Taboas, Melisa ; Buzzalino, Noemí ; Casali, Bárbara ; Belli, Susana ; Charreau, Eduardo H. ; Alba, Liliana ; Dain, Liliana |