Cristin-person-ID: 55814
Person

Marijke Van Ghelue

  • Stilling:
    Forskerleder
    ved Barne- og ungdomsklinikken ved Universitetssykehuset Nord-Norge HF
  • Stilling:
    1011 førsteamanuensis
    ved Nevromuskulære sykdommer ved UiT Norges arktiske universitet

Resultater Resultater

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Efthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L; Liang, Robin Amanda; Abdel-Hamid, Mohamed S; Sultan, Tipu; Barøy, Tuva; Van Ghelue, Marijke mfl.. 2024, Brain. UIT, USA, SAUDIARAB, PAKISTAN, STORBRITAN, UMC, GASLINI, OUS, INNLANDET, UMG, UDEM, UNI, UNN, UdSdG, NEDERLAND, NRC, WUSL, UCLVitenskapelig artikkel

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.

Bassi, Nicola; Hovland, Henrikke; Rasheed, Kashif; Jarhelle, Elisabeth; Pedersen, Nikara; Kabanyana Mchaina, Eunice; Bakkan, Sara Marie Engelsvold; Iversen, Nina; Vetti, Hildegunn Høberg; Haukanes, Bjørn Ivar mfl.. 2023, BMC Cancer. UIT, UNN, HAUKELAND, OUS, UIBVitenskapelig artikkel

Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.

Hovland, Henrikke Nilsen; Mchaina, Eunice Kabanyana; Vetti, Hildegunn Høberg; Ariansen, Sarah Louise; Sjursen, Wenche; Van Ghelue, Marijke; Haukanes, Bjørn Ivar; Knappskog, Per Morten; Aukrust, Ingvild; Berge, Elisabet Ognedal. 2023, Genes. VID, UIT, STOLAV, UNN, HAUKELAND, NTNU, OUS, UIBVitenskapelig artikkel

Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).

Jensen, Synnøve; Müller, Kai Ivar; Mellgren, Svein Ivar; Bindoff, Laurence Albert; Rasmussen, Magnhild; Ørstavik, Kristin; Jonsrud, Christoffer; Tveten, Kristian; Nilssen, Øivind; Van Ghelue, Marijke mfl.. 2022, Neuromuscular Disorders. UIT, UNN, TELEMARK, HAUKELAND, SØRLAND, OUS, UIBVitenskapelig artikkel

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.

Ørstavik, Kristin; Arntzen, Kjell Arne; Mathisen, Per; Backe, Paul Hoff; Tangeraas, Trine; Rasmussen, Magnhild; Kristensen, Erle; Van Ghelue, Marijke; Jonsrud, Christoffer; Bliksrud, Yngve Thomas. 2022, JIMD Reports. UNN, UIO, OUSFagartikkel
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