11p Microdeletion including <it>WT1 </it>but not <it>PAX6</it>, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

by Baekgaard Peter, Bangsgaard Regitze, Brøndum-Nielsen Karen, Almind Gitte J, Grønskov Karen
Published 2009-02-01

Genomic deletions in <it>OPA1 </it>in Danish patients with autosomal dominant optic atrophy

by Larsen Michael, Milea Dan, Grønskov Karen, Almind Gitte J, Brøndum-Nielsen Karen, Ek Jakob
Published 2011-04-01

Dominant optic atrophy in Denmark – report of 15 novel mutations in <it>OPA1</it>, using a strategy with a detection rate of 90%

by Almind Gitte J, Ek Jakob, Rosenberg Thomas, Eiberg Hans, Larsen Michael, LuCamp LuCamp, Brøndum-Nielsen Karen, Grønskov Karen
Published 2012-08-01