Listar por Autor Graña, Martín
Mostrando resultados 1 a 4 de 4
| Fecha de publicación | Título | Autor(es) |
| 2023 | Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy | Raggio, Víctor; Graña, Martín; Winiarski, Erik; Mansilla, Santiago; Simoes, Camila; Rodríguez, Soledad; Brandes, Mariana; Tapié, Alejandra; Rodríguez, Laura; Cibils, Lucía; Alonso, Martina; Martínez, Jennyfer; Fernández-Calero, Tamara; Domínguez, Fernanda; Rosas Mezquida, Melania; Castro, Laura; Cerisola, Alfredo; Naya, Hugo; Cassina, Adriana; Quijano, Celia; Spangenberg, Lucía |
| 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 |
| 2021 | Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause | Spangenberg, Lucía; Guecaimburú, Rosario; Tapié, Alejandra; Vivas, Susana; Rodríguez, Soledad; Graña, Martín; Naya, Hugo; Raggio, Víctor |
| 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 |
