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Mostrando resultados 1 a 10 de 10
Fecha de publicaciónTítuloAutor(es)
2023Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutationSpangenberg, María Noel; Grille, Sofía; Simoes, Camila; Brandes, Mariana; García-Luna, Joaquín; Catalán, Ana Inés; Ranero, Sabrina; Boada, Matilde; Trías, Natalia; Lens, Daniela; Raggio, Víctor; Spangenberg, Lucía
2023Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathyRaggio, 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
2021Emergence and spread of a B.1.1.28-derived P.6 lineage with Q675H and Q677H spike mutations in UruguayRego, Natalia; Salazar González, María Cecilia; Paz, Mercedes; Costábile Cristech, Alicia; Fajardo Rossi, Álvaro; Ferrés Cáceres, Ignacio; Perbolianachis Duarte, Paula; Fernández Calero, Tamara; Veronica, Noya; Machado, Matías; Brandes Lamas, Mariana Sofía; Arce Rama, Rodrigo; Arleo Capovilla, Mailén; Possi, Tania; Reyes, Natalia; Bentancor, María Noel; Lizasoaín Cuelho, Andrés; Bortagaray Galluzzo, Viviana; Moller, Ana; Chappos, Odhille; Nin, Nicolás; Hurtado, Francisco Javier; Duquía, Melissa; González, María Belén; Griffero Ramilo, Luciana; Méndez, Mauricio; Techera, María Pía; Smircich, Pablo; Mir, Daiana; Alonso, Cecilia; Medina, Julio; Albornoz, Henry; Colina, Rodney; Bello, Gonzalo; Moreno Karlen, María del Pilar; Moratorio, Gonzalo; Iraola, Gregorio; Spangenberg, Lucía
2021Indigenous ancestry and admixture in the uruguayan populationSpangenberg, Lucía; Fariello Rico, María Inés; Arce, Darío; Illanes, Gabriel; Greif, Gonzalo; Jong-Yeon, Shin; Seong-Keun, Yoo; Jeong-Sun, Seo; Robello Porto, Carlos; Kim, Changhoon; Novembre, John; Sans, Mónica; Naya Monteverde, Hugo Mario
2013Mecanismos de diferenciación y auto-renovación de células madre mesenquimales a adipocitosSpangenberg, Lucía
2022Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case reportSimoes, Camila; Graña, Martín; Rodríguez, Soledad; Baltar Yanes, Federico; Tapié, Alejandra; Dell’Oca, Nicolás; Naya, Hugo; Raggio, Víctor; Spangenberg, Lucía
2021Real-Time genomic surveillance for SARS-CoV-2 variants of concern, UruguayRego, Natalia; Costábile Cristech, Alicia; Paz, Mercedes; Salazar González, María Cecilia; Perbolianachis Duarte, Paula; Spangenberg, Lucía; Ferrés Cáceres, Ignacio; Arce Rama, Rodrigo; Fajardo Rossi, Álvaro; Arleo Capovilla, Mailén; Possi, Tania; Reyes, Natalia; Bentancor, María Noel; Lizasoaín Cuelho, Andrés; Benítez-Galeano, María José; Bortagaray Galluzzo, Viviana; Moller, Ana; Bello, Gonzalo; Arantes, Ighor; Brandes Lamas, Mariana Sofía; Smircich, Pablo; Chappos, Odhille; Duquía, Melissa; González, Belén; Griffero Ramilo, Luciana; Méndez, Mauricio; Techera, María Pía; Zanetti, Juan Andrés; Rivera Soto, Bernardina Inés; Maidana, Matías; Alonso Tomasetti, Martina María; Alonso, Cecilia; Medina, Julio; Albornoz, Henry; Colina, Rodney; Noya, Verónica; Iraola, Gregorio; Fernández Calero, Tamara; Moratorio, Gonzalo; Moreno Karlen, María del Pilar
2021Recurrent dissemination of SARS-CoV-2 through the Uruguayan–Brazilian borderMir, Daiana; Rego, Natalia; Resende, Paola Cristina; Tort, Fernando; Fernández Calero, Tamara; Noya, Verónica; Brandes Lamas, Mariana Sofía; Possi, Tania; Arleo Capovilla, Mailén; Reyes, Natalia; Victoria, Matías; Lizasoaín Cuelho, Andrés; Maya Soto, Leticia María; Salvo Rodríguez, Marcos Matías; Schäffer Gregianini, Tatiana; Mar da Rosa, Marilda Tereza; Garay Martins, Letícia; Alonso, Cecilia; Vega, Yasser; Salazar González, María Cecilia; Ferrés Cáceres, Ignacio; Smircich, Pablo; Sotelo-Silveira, José Roberto; Fort Canobra, Rafael S; Mathó, Cecilia; Arantes, Ighor; Appolinario, Luciana; Mendonça, Ana Carolina; Benítez-Galeano, María José; Simoes Amaro, Camila; Graña Alfonso, Martín; Motta, Fernando; Mendonça Siqueira, Marilda; Bello, Gonzalo; Colina, Rodney; Spangenberg, Lucía
2022Testing the existence of an unadmixed ancestor from a specific population t generations agoIllanes, Gabriel; Fariello Rico, María Inés; Spangenberg, Lucía; Mordecki, Ernesto; Naya Monteverde, Hugo Mario
2022Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptomsSpangenberg, María Noel; Grille, Sofía; Simoes, Camila; Dell’Oca, Nicolás; Boada, Matilde; Guillermo, Cecilia; Raggio, Víctor; Spangenberg, Lucía