Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication

por Tolezano, Giovanna Cantini, da Costa, Silvia Souza, Scliar, Marília de Oliveira, Fernandes, Walter Luis Magalhães, Otto, Paulo Alberto, Bertola, Débora Romeo, Rosenberg, Carla, Vianna-Morgante, Angela Maria, Krepischi, Ana Cristina Victorino
Publicado 2020

Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development

por Pires, Sara Ferreira, de Barros, Juliana Sobral, da Costa, Silvia Souza, do Carmo, Gabriel Bandeira, Scliar, Marília de Oliveira, Lengert, André van Helvoort, Boldrini, Érica, da Silva, Sandra Regini Morini, Vidal, Daniel Onofre, Maschietto, Mariana, Krepischi, Ana Cristina Victorino
Publicado 2023

Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype

por Souza, Lucas Santos, Almeida, Camila Freitas, Yamamoto, Guilherme Lopes, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, da Costa, Silvia Souza, Anequini, Isabela Pessa, do Carmo, Silvana Amanda, Wang, Jaqueline Yu Ting, Scliar, Marília de Oliveira, Castelli, Erick C., Otto, Paulo Alberto, Zanoteli, Edmar, Vainzof, Mariz
Publicado 2020

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

por Krepischi, Ana C. V., Villela, Darine, da Costa, Silvia Souza, Mazzonetto, Patricia C., Schauren, Juliana, Migliavacca, Michele P., Milanezi, Fernanda, Santos, Juliana G., Guida, Gustavo, Guarischi-Sousa, Rodrigo, Campana, Gustavo, Kok, Fernando, Schlesinger, David, Kitajima, Joao Paulo, Campagnari, Francine, Bertola, Debora R., Vianna-Morgante, Angela M., Pearson, Peter L., Rosenberg, Carla
Publicado 2022