Listing by Author Dell’Oca, Nicolás
Showing results 1 to 3 of 3
| Issue Date | Title | Author(s) |
| 2022 | Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report | Simoes, Camila; Graña, Martín; Rodríguez, Soledad; Baltar Yanes, Federico; Tapié, Alejandra; Dell’Oca, Nicolás; Naya, Hugo; Raggio, Víctor; Spangenberg, Lucía |
| 2022 | Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms | Spangenberg, María Noel; Grille, Sofía; Simoes, Camila; Dell’Oca, Nicolás; Boada, Matilde; Guillermo, Cecilia; Raggio, Víctor; Spangenberg, Lucía |
| 2021 | Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease | Raggio, Víctor; Dell’Oca, Nicolás; Simoes, Camila; Tapié, Alejandra; Medici, Conrado; Costa, Gonzalo; Rodríguez, Soledad; Greif, Gonzalo; Garrone, Estefanía; Rovella, María Laura; González, Virginia; Halty, Margarita; González, Gabriel; Shin, Jong-Yeon; Shin, Sang-Yoon; Kim, Changhoon; Seo, Jeong-Sun; Graña, Martín; Naya, Hugo; Spangenberg, Lucía |
