| 1-may-2024 | Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report | Artículo | Baltar, Federico; Simoes, Camila; Garagorry, Francisco; Graña, Martín; Rodríguez, Soledad; Aunchayna, María Haydée; Tapié, Alejandra; Cerisola, Alfredo; González, Gabriel; Naya, Hugo; Spangenberg, Lucía; Raggio, Víctor |
| 10-may-2021 | Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease | Artículo | Raggio, Víctor; Dell’Oca, Nicolás; Simoes, Camila; Tapié, Alejandra; Médici, Conrado; Costa, Gonzalo; Halty, Margarita; González, Gabriel; Shin, Jong-Yeon; Shin, Sang-Yoon; Kim, Changhoon; Seo, Jeong-Sun; Graña, Martín; Greif, Gonzalo; Rodríguez, Soledad; Garrone, Estefanía; Rovella, María Laura; González, Virgina; Naya, Hugo; Spangenberg, Lucía |
