Fernandez, Cecilia
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Nombre completo
Fernandez, Cecilia
Publicaciones
(Artigos)
Resultados 1-3 of 3 (Tempo de busca: 0.001 segundos).
| Data do envio | Título | Autor(s) | |
|---|---|---|---|
| 1 | 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 |
| 2 | 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 |
| 3 | 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 |