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Oddveig Røsby

Observed names: O Rösby, O Røsby, O. Rosby, O. Røsby, O., Røsby, Oddveig Rosby, Oddveig Rösby, Røsby, Oddveig
OpenAlex ID: A5020176721
CHD2 mutations in Lennox–Gastaut syndrome
2014 · Caroline Lund, Eylert Brodtkorb, et al. · Epilepsy & Behavior · 64
Clinical manifestations of intermediate allele carriers in Huntington disease
2016 · Esther Cubo, María A. Ramos-Arroyo, et al. · Neurology · 53
Copy number variants in adult patients with Lennox–Gastaut syndrome features
2013 · Caroline Lund, Eylert Brodtkorb, et al. · Epilepsy Research · 43
LPA gene: interaction between the apolipoprotein(a) size (‘kringle IV’ repeat) polymorphism and a pentanucleotide repeat polymorphism influences Lp(a) lipoprotein level
2000 · O. Røsby, K. Berg · Journal of Internal Medicine · 38
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Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study
2018 · Paul McNulty, Richard Pilcher, et al. · Journal of Huntington s Disease · 35
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations inCENPF
2016 · Isabel Filges, Elisabeth Bruder, et al. · Human Mutation · 33
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1.4 Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype
2008 · Olaug K. Rødningen, Trine Prescott, et al. · European Journal of Medical Genetics · 32
Aicardi Syndrome: An Epidemiologic and Clinical Study in Norway
2014 · Caroline Lund, Marit Bjørnvold, et al. · Pediatric Neurology · 30
Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation
2018 · Inger Marie Skogseid, Oddveig Røsby, et al. · Journal of Neurodevelopmental Disorders · 29
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Screening for point mutations by semi-automated DNA sequencing using sequenase and magnetic beads.
1993 · T P Leren, O K Rødningen, et al. · PubMed · 29
Sequence conservation in kringle IV-type 2 repeats of the LPA gene
2000 · Oddveig Røsby, Peter Aleström, et al. · Atherosclerosis · 25
Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia Norwegian subjects
1993 · Olaug K. Rødningen, Trond P. Leren, et al. · Clinical Genetics · 15
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
2016 · Isabel Filges, Elisabeth Bruder, et al. · Human Mutation · 10
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High‐degree sequence conservation in LPA kringle IV‐type 2 exons and introns
1997 · Oddveig Rösby, Peter Aleström, et al. · Clinical Genetics · 10
Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation
2022 · Helle Høyer, Øyvind L. Busk, et al. · BMC Neurology · 8
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Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation
2016 · Oddveig Røsby, Andrea Legati, et al. · Journal of Neurology · 4
Unilateral cleft lip in a boy with Angelman syndrome.
1996 · O Rösby, P Strömme, et al. · PubMed · 4
Leber Hereditary Optic Neuropathy Case Report: Clinical Presentation and Treatment with Idebenone Reinforce the Evidence for m.3866T>C as a Causative Variant
2024 · Øystein K. Jørstad, Stine Skaar, et al. · Case Reports in Ophthalmology
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Additional file 4 of Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation
2022 · Høyer, Helle, Busk, Øyvind L., et al. · Figshare
Additional file 2 of Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation
2022 · Høyer, Helle, Busk, Øyvind L., et al. · Figshare
CAPN3 mutation c. 643-663del21 identified in 52 Norwegian patients belonging to 24 families is associated with dominant calpainopathy
2015 · M. Van Ghelue, C. Wahl, et al. · Neuromuscular Disorders
Works count: 25
Citation count: 462
H-index: 12
I10-index: 14
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