Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Martins, Márcia" or (type exact bookEditor and editor="Martins, Márcia") Add to list Journal Article A1 Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon Saiqa Yasmeen, Katrine Lund, Anne De Paepe (UGent) , Sylvia De Bie (UGent) , Arvid Heiberg, João Silva, Márcia Martins, Tina Skjørringe and Lisbeth B Møller (2014) EUROPEAN JOURNAL OF HUMAN GENETICS. 22(4). p.517-521