Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review
Perrone, Eduardo, Cavole, Thiago R., Oliveira, Manuella G., Virmond, Luiza do A., Silva, Marina de França B., Soares, Maria de Fatima F., Iglesias, Simone Brasil de O., Falconi, Ariane, Silva, Juliana S., Nakano, Viviane, Milanezi, Maria Fernanda, Mendes, Carmen Silvia C., Curiati, Marco Antonio, Micheletti, Cecília
Published in Genetics and molecular biology (01.01.2020)
Published in Genetics and molecular biology (01.01.2020)
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Genetic landscape of homologous recombination repair genes in early-onset/familial prostate cancer patients
Paulo, Paula, Cardoso, Marta, Brandão, Andreia, Pinto, Pedro, Falconi, Ariane, Pinheiro, Manuela, Cerveira, Nuno, Silva, Rui, Santos, Catarina, Pinto, Carla, Peixoto, Ana, Maia, Sofia, Teixeira, Manuel R
Published in Genes chromosomes & cancer (01.12.2023)
Published in Genes chromosomes & cancer (01.12.2023)
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A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review
Galvão de Oliveira, Manuella, Tengan, Célia, Micheletti, Cecília, Ramos de Macedo, Paloma, Soares Pinho Cernach, Mirlene Cecília, Cavole, Thiago Rodrigues, de França Basto, Marina, Filho, Joselito Sobreira, Virmond, Luiza Amaral, Milanezi, Fernanda, Nakano, Viviane, Falconi, Ariane, Perrone, Eduardo
Published in European journal of medical genetics (01.05.2021)
Published in European journal of medical genetics (01.05.2021)
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Journal Article
A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient
Perrone, Eduardo, Chen, Kelin, Ramos, Marco, Milanezi, Maria Fernanda, Nakano, Viviane, Falconi, Ariane, Silva, Juliana, Campos, Jamille, Silva, Celia M.C., Filho, Joao B.O., Perez, Ana B.A.
Published in Molecular syndromology (01.05.2018)
Published in Molecular syndromology (01.05.2018)
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Prevalence of Mycoplasma hominis and Ureaplasma spp. in Routine Gynecological Care in Sao Paulo City, Brazil
Milanezi, Fernanda, Falconi, Ariane, Schnabel, Beatriz, R. Ricardi, Luana, M. Monfredini, Priscilla, T. Ziliotto, Alline, F. Lopes, Vanessa, A. Machado, Silvana, J. Oliveira, Marinelia, C. Centrone, Cristiane, Nakano, Viviane
Published in Archives of clinical infectious diseases (01.07.2016)
Published in Archives of clinical infectious diseases (01.07.2016)
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