Oculocutaneous albinism

by Brondum-Nielsen Karen, Ek Jakob, Grønskov Karen
Published 2007-11-01

Normal RNAi response in human fragile × fibroblasts

by Madsen Charlotte, Grønskov Karen, Brøndum-Nielsen Karen, Jensen Thomas G
Published 2009-09-01

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

Human <it>CCS</it> gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)

by Tommerup Niels, Petersen Michael B, Werdelin Lene, Panas Marios, Gredal Ole, Brondum-Nielsen Karen, Silahtaroglu Asli N, Tümer Zeynep
Published 2002-04-01

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

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5q...

by Tommerup Niels, Baekgaard Peter, Pedersen Vibeke, Ledaal Paal, Friis Birgitte, Hahnemann Johanne, Hjalgrim Helle, Tümer Zeynep, Sogaard Marie, Cingöz Sultan, Duno Morten, Brondum-Nielsen Karen
Published 2005-05-01