Browsing by Author Fernandez, Cecilia
Showing results 1 to 4 of 4
| Issue Date | Title | Author(s) |
|---|---|---|
| 22-Jun-2022 | Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease | Delea, Marisol ; Massara, Lucía S ; Espeche, Lucía ; Bidondo, Maria Paz ; Barbero, Pablo ; Oliveri, Jaen ; Brun, Paloma ; Fabro, Mónica ; Galain, Micaela ; Fernandez, Cecilia ; Taboas, Melisa ; Bruque, Carlos David ; Kolomenski, Emilio ; Izquiedo, Agustín ; Berenstein, Ariel ; Cosentino, Viviana R ; Martinoli, Celeste ; Vilas, Mariana ; Rittler, Mónica ; Mendez, Rodrigo ; Furforo, Lilian ; Liascovich, Rosa ; Groisman, Boris ; Rozental, Sandra ; 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 |
| Jun-2021 | Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing | Mendez, Rodrigo ; Iqbal, Sumaiya ; Vishnopolska, Sebastián A ; Martínez, Cinthia ; Dibner, Glenda ; Aliano, Rocio ; Zaiat, Jonathan ; Biagioli, Germán ; Fernandez, Cecilia ; Turjanski, Adrián G ; Campbell, Arthur J ; Mercado, Graciela ; Marti, Marcelo A |