Bjørn Ivar Haukanes

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 · 233 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Familial Diarrhea Syndrome Caused by an Activating <i>GUCY2C</i> Mutation

Torunn Fiskerstrand, Najla Arshad, Bjørn Ivar Haukanes et al. · New England Journal of Medicine · 2012 · 208 citations

Life Sciences, Genetics, Molecular Genetics +15

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 · 181 citations · Full text

Life Sciences, Genetics, Neurology +17

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Stéphanie Moortgat, Siren Berland, Ingvild Aukrust et al. · European Journal of Human Genetics · 2017 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Current clinical criteria for Lynch syndrome are not sensitive enough to identify <i>MSH6</i> mutation carriers

Wenche Sjursen, Bjørn Ivar Haukanes, Eli Marie Grindedal et al. · Journal of Medical Genetics · 2010 · 99 citations · Full text

Life Sciences, Genetics, Oncology +17