Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo‐telomere formation

Por Chabchoub, Elyes, Rodríguez, Laura, Galán, Enrique, Mansilla, Elena, Martínez‐Fernandez, Maria Luisa, Martínez‐Frías, Maria Luisa, Fryns, Jean‐Pierre, Vermeesch, Joris Robert
Publicado em 2007

Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Por Rooryck, Caroline, Diaz-Font, Anna, Osborn, Daniel P.S., Chabchoub, Elyes, Hernandez-Hernandez, Victor, Shamseldin, Hanan, Kenny, Joanna, Waters, Aoife, Jenkins, Dagan, Kaissi, Ali Al, Leal, Gabriela F., Dallapiccola, Bruno, Carnevale, Franco, Bitner-Glindzicz, Maria, Lees, Melissa, Hennekam, Raoul, Stanier, Philip, Burns, Alan J., Peeters, Hilde, Alkuraya, Fowzan S, Beales, Philip L.
Publicado em 2011