Browsing by Author Delea, Marisol
Showing results 1 to 5 of 5
| Issue Date | Title | Author(s) |
|---|---|---|
| 26-Mar-2019 | A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome | Mendez, Rodrigo ; Delea, Marisol ; Dain, Liliana ; Rittler, Mónica |
| 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 I. ; 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 |
| 16-Aug-2017 | Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency | Espeche, Lucía Daniela ; Chiauzzi, Violeta ; Ferder, Ianina ; Arrar, Mehrnoosh ; Solari, Andrea Paula ; Bruque, Carlos David ; Delea, Marisol ; Belli, Susana ; Fernández, Cecilia Soledad ; Buzzalino, Noemí Delia ; Charreau, Eduardo Hernán ; Dain, Liliana |
| 11-Sep-2018 | Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects | Delea, Marisol ; Espeche, Lucía Daniela ; Bruque, Carlos David ; 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 ; Pérez, Myriam ; Furforo, Lilian ; Buzzalino, Noemí Delia ; Liascovich, Rosa ; Groisman, Boris ; Rittler, Mónica ; Rozental, Sandra ; Barbero, Pablo ; 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 |