Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)

por Zamariolli, Malú, Colovati, Mileny, Moysés‐Oliveira, Mariana, Nunes, Natália, Caires dos Santos, Leonardo, Alvarez Perez, Ana B., Bragagnolo, Silvia, Melaragno, Maria Isabel
Publicado 2019

Copy number variation (CNV) identification, interpretation, and database from Brazilian patients

por de Godoy, Victória Cabral Silveira Monteiro, Bellucco, Fernanda Teixeira, Colovati, Mileny, de Oliveira-Junior, Hélio Rodrigues, Moysés-Oliveira, Mariana, Melaragno, Maria Isabel
Publicado 2020

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

por Colovati, Mileny ES, da Silva, Luciana RJ, Takeno, Sylvia S, Mancini, Tatiane I, N Dutra, Ana R, Guilherme, Roberta S, de Mello, Cláudia B, Melaragno, Maria I, A Perez, Ana B
Publicado 2012