Cecilie Bredrup

IC3D Classification of Corneal Dystrophies—Edition 2

Jayne S. Weiss, Hans Ulrik Møller, Anthony J. Aldave et al. · Cornea · 2015 · 510 citations · Full text

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Cecilie Bredrup, Sophie Saunier, Machteld M. Oud et al. · The American Journal of Human Genetics · 2011 · 235 citations · Full text

Urology, Mendelian Disorder, Renal Insufficiency +11

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

Torunn Fiskerstrand, Dorra H’mida-Ben Brahim, Stefan Johansson et al. · The American Journal of Human Genetics · 2010 · 232 citations · Full text

Cannabis Use, Neurodegenerative Diseases, Neurodegenerative Disease Pharc +12

Congenital Stromal Dystrophy of the Cornea Caused by a Mutation in the Decorin Gene

Cecilie Bredrup, Per M. Knappskog, Jacek Majewski et al. · Investigative Ophthalmology & Visual Science · 2005 · 194 citations

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Kristoffer Haugarvoll, Stefan Johansson, Charalampos Tzoulis et al. · Orphanet Journal of Rare Diseases · 2013 · 180 citations · Full text