Fecha de publicación | Título | Tipo | Autor(es) |
feb-2025 | A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches | Artículo | Rolando, Matías; Raggio, Victor; Naya, Hugo; Cagnina, Leticia; Spangenberg, Lucía |
2016 | Transcriptome Sequencing Reveals Wide Expression Reprogramming of Basal and Unknown Genes in Leptospira biflexa Biofilms | Artículo | Iraola, Gregorio; Spangenberg, Lucía; Lopes Bastos, Bruno; Graña, Martín; Vasconcelos, Larissa; Almeida, Áurea; Greif, Gonzalo; Robello, Carlos; Ristow, Paula; Naya, Hugo |
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 |