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Human Molecular Genetics|December 14, 2011
Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidificationKristian Tveten, Øystein L Holla, Jamie Cameron, et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke|November 5, 2015
Clinical exome sequencing – Norwegian findingsØystein L Holla, Øyvind L Busk, Kristian Tveten, et al.
Molecular Genetics and Metabolism|April 6, 2017
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 controlsGry B N Nordang, Øyvind L Busk, Kristian Tveten, et al.
Neuromuscular Disorders : NMD|December 15, 2022
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)Synnøve M Jensen, Kai Ivar Müller, Svein Ivar Mellgren, et al.
BMJ Open|April 22, 2025
Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in NorwayCecilie Fremstad Rustad, Ragnheidur Bragadottir, Hilde Nordgarden, et al.
Orphanet Journal of Rare Diseases|March 15, 2025
Clinical and genetic aspects of Bardet-Biedl syndrome in adults in NorwayCecilie Fremstad Rustad, Ragnheidur Bragadottir, Kristian Tveten, et al.
European Journal of Human Genetics : EJHG|July 7, 2019
De novo substitutions of TRPM3 cause intellectual disability and epilepsyDavid A Dyment, Paulien A Terhal, Cecilie F Rustad, et al.
Molecular Genetics & Genomic Medicine|June 11, 2024
A monoallelic UXS1 variant associated with short-limbed short statureCecilie F Rustad, Paul Hoff Backe, Chunsheng Jin, et al.
European Journal of Human Genetics : EJHG|December 8, 2020
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosisElin Tønne, Bernt Johan Due-Tønnessen, Inger-Lise Mero, et al.
Journal of Human Genetics|May 13, 2021
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric functionNadra Samra, Shir Toubiana, Hilde Yttervik, et al.
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