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Search Results - Falconi, Ariane
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Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review
by
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
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Genetic landscape of homologous recombination repair genes in early-onset/familial prostate cancer patients
by
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
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A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review
by
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
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A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient
by
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
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Characterization of Brca2-deficient plants excludes the role of NHEJ and SSA in the meiotic chromosomal defect phenotype
by
Dumont, Marilyn
,
Massot, Sophie
,
Doutriaux, Marie-Pascale
,
Gratias, Ariane
Published in
PloS one
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