Ellen Annexstad

  • Senior consultant in pediatrics; MD, PhD
  • +47 413 20 836

Pt Frambu, Duchenne-studie

 

Publications 2017

Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS (2017)
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Mol Genet Metab, 122 (4), 182-188
DOI 10.1016/j.ymgme.2017.10.014, PubMed 29122468

Steinholt M, Engjom H, Annexstad E, Moksnes KE, Abraham R, Kvaal B (2017)
[Human rights, climate and global health in the Medical Association]
Tidsskr Nor Laegeforen, 137 (6), 432
DOI 10.4045/tidsskr.17.0092, PubMed 28332792

Publications 2010

Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A et al. (2010)
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum
Hum Mutat, 31 (9), 992-1002
DOI 10.1002/humu.21304, PubMed 20556798

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