Recurrent dissemination of SARS-CoV-2 through the Uruguayan–Brazilian border D Mir, N Rego, PC Resende, F Tort, T Fernández-Calero, V Noya, ... Frontiers in Microbiology 12, 653986, 2021 | 23 | 2021 |
Virtual learning approach to biological engineering courses in Uruguay during COVID-19 C Simoes, P Chatterjee, LP Lemes, A Tesis, F La Paz, G Cuñarro, ... Higher Education, Skills and Work-Based Learning 11 (5), 1020-1034, 2021 | 21 | 2021 |
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease V Raggio, N Dell’Oca, C Simoes, A Tapié, C Medici, G Costa, ... Human Genomics 15 (1), 28, 2021 | 8 | 2021 |
Virtual learning approach toward introductory biological engineering course in Uruguay during COVID-19 P Chatterjee, A Tesis, C Simoes, F La Paz, M Masset, L Lemes, V Yelós, ... EAI Endorsed Transactions on Pervasive Health and Technology 7 (25), 2020 | 4 | 2020 |
Two mutations in the SBDS gene reveal a diagnosis of Shwachman–Diamond syndrome in a patient with atypical symptoms MN Spangenberg, S Grille, C Simoes, N Dell'Oca, M Boada, C Guillermo, ... Molecular Case Studies 8 (7), a006237, 2022 | 2 | 2022 |
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report C Simoes, M Graña, S Rodriguez, F Baltar Yanes, A Tapié, N Dell’Oca, ... BMC pediatrics 22 (1), 545, 2022 | 2 | 2022 |
Despertar el interés por la ingeniería en adolescentes mujeres: adaptación de talleres divulgativos de electrónica al contexto de distancia social I Briozzo, F Blasina, C Simoes, A Fernández, A Tesis, L Lemes, ... 5° Congreso Argentino de Ingeniería (CADI), 11° Congreso Argentino de …, 2021 | 2 | 2021 |
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic … V Raggio, M Graña, E Winiarski, S Mansilla, C Simoes, S Rodríguez, ... Human Genomics 17 (1), 14, 2023 | 1 | 2023 |
Data and knowledge infrastructures for scientific research on humans and health in Uruguay: an experience report on a critical constructive design process H Botti, H Naya, S Méndez, C Simoes, V Martufi Informatio 27 (1), 7-54, 2022 | 1 | 2022 |
Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report F Baltar, C Simoes, F Garagorry, M Graña, S Rodríguez, ... Frontiers in Pediatrics 12, 1379254, 2024 | | 2024 |
WCN24-864 Alport Syndrome: genetic variants, phenotypes of kidney disease and association with End Stage Kidney Disease in a Uruguayan Cohort F Yandian, L Spangenberg, V Raggio, N Dell, L Urquiola, S Fontenla, ... Kidney International Reports 9 (4), S335-S336, 2024 | | 2024 |
Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation MN Spangenberg, S Grille, C Simoes, M Brandes, J Garcia-Luna, ... Frontiers in Oncology 13, 2023 | | 2023 |
Infraestruturas de dados e conhecimento para pesquisas científicas sobre humanos e saúde no Uruguai: um relato de experiência sobre um processo de projeto construtivo crítico H Botti, H Naya, S Méndez, C Simoes, V Martufi Informatio 27 (1), 7-54, 2022 | | 2022 |
Germline mutations in ATM, CHEK2, and other known/potential breast cancer susceptibility genes among BRCA-negative Uruguayan patients with breast cancer. LB Delgado, A Cayota, N Artagaveytia, N Silveyra Olivera, ... Journal of Clinical Oncology 40 (16_suppl), 10596-10596, 2022 | | 2022 |
Infraestructuras de datos y conocimiento para la investigación científica sobre humanos y salud en Uruguay: relato de experiencia sobre un proceso de diseño constructivo crítico H Botti, H Naya, S Méndez, C Simoes, V Martufi Informatio 27 (1), 10-68, 2022 | | 2022 |
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery V Raggio, N Dell’Oca, C Simoes, A Tapié, C Medici, G Costa, ... | | 2021 |
Recurrent dissemination of SARS-CoV-2 through the Uruguayan-Brazilian border (preprint) D Mir, N Rego, PC Resende, F Lopez-Tort, T Fernandez-Calero, V Noya, ... | | 2021 |