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

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

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

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