Navegando por Autor Fernandez, Cecilia
Mostrando resultados 1 a 2 de 2
| Data do envio | Título | Autor(s) |
|---|---|---|
| 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 |
| 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 |