Sylvia de Bie
AuthID: R-00G-JKM
1
TITLE: Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon Full Text
AUTHORS: Saiqa Yasmeen; Katrine Lund; Anne De Paepe; Sylvia De Bie; Arvid Heiberg; Joao Silva; Marcia Martins; Tina Skjorringe; Lisbeth B Moller;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 4
AUTHORS: Saiqa Yasmeen; Katrine Lund; Anne De Paepe; Sylvia De Bie; Arvid Heiberg; Joao Silva; Marcia Martins; Tina Skjorringe; Lisbeth B Moller;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 4
