Øyvind L. Busk

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 193 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

Helle Høyer, Geir J. Braathen, Øyvind L. Busk et al. · BioMed Research International · 2014 · 69 citations · Full text

Identification of surface proteins in Enterococcus faecalis V583

Liv Anette Bøhle, Tahira Riaz, Wolfgang Egge‐Jacobsen et al. · BMC Genomics · 2011 · 67 citations · Full text

Next-generation sequencing of the monogenic obesity genes LEP , LEPR , MC4R , PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls

Gry B. N. Nordang, Øyvind L. Busk, Kristian Tveten et al. · Molecular Genetics and Metabolism · 2017 · 64 citations · Full text

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella et al. · Genetics in Medicine · 2020 · 54 citations · Full text

Nexmif Encephalopathy, Mendelian Disorder, Fragile X Spectrum +8