Browsing by Author Claps, Aldana
Showing results 1 to 3 of 3
| Issue Date | Title | Author(s) |
|---|---|---|
| 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 |
| 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 |
| 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 |