Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report

por Marques, Bárbara, Ferreira, Cristina, Brito, Filomena, Pedro, Sónia, Alves, Cristina, Lourenço, Teresa, Amorim, Marta, Correia, Hildeberto
Publicado 2016

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)

por Vijzelaar, Raymon, Waller, Sarah, Errami, Abdellatif, Donaldson, Alan, Lourenco, Teresa, Rodrigues, Marcia, McConnell, Vivienne, Fincham, Gregory, Snead, Martin, Richards, Allan
Publicado 2013

BRCA1 VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer

por Lourenço, Rita Adubeiro, Lança, Miguel, Monteiro Gil, Octávia, Cardoso, Joana, Lourenço, Teresa, Pereira-Leal, José B., Rodrigues, António Sebastião, Rueff, José, Nunes Silva, Susana
Publicado 2023