Browsing by Author Taboas, Melisa
Showing results 1 to 9 of 9
| Issue Date | Title | Author(s) |
|---|---|---|
| Jul-2020 | An update on genetic variants of the NKX2-5 | Delea, Marisol ; Simonetti, Leandro ; Fabbro, Mónica ; Espeche, Lucía ; Taboas, Melisa ; Nadra, Alejandro D. ; Bruque, Carlos David ; Dain, Liliana |
| 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 ; 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 |
| 4-Sep-2025 | Classic Prader-Willi Syndrome Phenotype Caused by an Atypical Deletion in the 15q11 Region Not Involving the SNORD Genes | Martínez, Jazmín Belén ; Arancedo, Josefina María Álvarez ; Solari, Andrea ; Claps, Aldana ; Castro, Tania ; Laiseca, Julieta ; Taboas, Melisa |
| 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 |
| 15-Jul-2013 | Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient | Taboas, Melisa ; Fernandez, Cecilia ; Belli, Susana ; Buzzalino, Noemí ; Alba, Liliana ; Dain, Liliana |
| 1-Oct-2023 | Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson | Solari, Andrea ; Alberto, Guillermo ; Benitez Medina, Ana ; García Ayré, Brenda ; Parisini, Daniel ; Claps, Aldana ; Taboas, Melisa |
| Dec-2016 | Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations | Bruque, Carlos David ; 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 |