Concepedia

Øystein L. Holla

ØL

Statistics

Publications

32

Citations

1.6K

H-Index

25

Active since

2005

Affiliations

Oslo University Hospital(Current)

Telemark Hospital

University of Oslo

Haukeland University Hospital

The University of Melbourne

Øystein L. Holla is an author at Oslo University Hospital specializing in medicine, genetics, and natural sciences.

ORCID

Top concepts

Publications per year

2005–2023

32

Publications

32

Effect of mutations in the PCSK9 gene on the cell surface LDL receptors

Jamie Cameron, Øystein L. Holla, Trine Ranheim et al. · Human Molecular Genetics · 2006 · 256 citations · Full text

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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

, , +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

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

Characterization of novel mutations in the catalytic domain of the PCSK9 gene

Jamie Cameron, Øystein L. Holla, Jon K. Laerdahl et al. · Journal of Internal Medicine · 2008 · 63 citations · Full text

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