Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor


  1. 1996
  2. Published

    The susceptibility of dental plaque bacteria to the herbs included in Longo Vital®. / Larsen, T.; Fiehn, N. E.; Østergaard, E.

    In: Microbial Ecology in Health and Disease, Vol. 9, No. 3, 01.05.1996, p. 91-95.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2008
  4. Published

    Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. / Boonen, Susanne E; Pörksen, Sven; Mackay, Deborah Jg; Oestergaard, Elsebet; Olsen, Birthe; Brøndum-Nielsen, Karen; Temple, I Karen; Hahnemann, Johanne Md.

    In: European Journal of Human Genetics, Vol. 16, No. 4, 2008, p. 453-61.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients. / Thomsen, L.L.; Oestergaard, E.; Bjornsson, A.; Stefansson, H.; Fasquel, A.C.; Gulcher, J.; Stefansson, K.; Olesen, J.

    In: Cephalalgia, Vol. 28, No. 9, 2008, p. 914-921.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2009
  7. Published

    Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder. / Janssen, Rolf J R J; Distelmaier, Felix; Smeets, Roel; Wijnhoven, Tessa; Østergaard, Elsebet; Jaspers, Nicolaas G J; Raams, Anja; Kemp, Stephan; Rodenburg, Richard J T; Willems, Peter H M G; van den Heuvel, Lambert P W J; Smeitink, Jan A M; Nijtmans, Leo G J.

    In: Human Molecular Genetics, Vol. 18, No. 18, 2009, p. 3365-74.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2010
  9. Published

    Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. / Dad, S.; Østergaard, Elsebet; Thykjær, T.; Albrechtsen, Anders; Ravn, Kirstine Johanne Theresia; Rosenberg, T.; Møller, Lisbeth Birk.

    In: Clinical Genetics, Vol. 78, No. 4, 2010, p. 388-397.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. / Østergaard, Elsebet; Schwartz, Marianne; Batbayli, Mustafa; Christensen, Ernst; Hjalmarson, Ola; Kollberg, Gittan; Holme, Elisabeth.

    In: European Journal of Pediatrics, Vol. 169, No. 2, 01.02.2010, p. 201-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2013
  12. Published

    Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. / Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet; Kelsh, Robert N; Hansen, Lars; Levesque, Mitchell P; Vilhelmsen, Kaj; Møllgård, Kjeld; Stemple, Derek L; Rosenberg, Thomas.

    In: American Journal of Human Genetics, Vol. 92, No. 3, 07.03.2013, p. 415-21.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2014
  14. Published

    Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family. / Dad, S; Ostergaard, E; Wadt, Ka; Lunding, J; Eiberg, H; Møller, Lb.

    In: Clinical Genetics, Vol. 85, No. 4, 04.2014, p. 390-392.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. 2015
  16. Published

    A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood. / Born, Alfred Peter; Duno, Morten; Rafiq, Jabin; Risom, Lotte; Wibrand, Flemming; Østergaard, Elsebet; Vissing, John.

    In: European Journal of Paediatric Neurology, Vol. 19, No. 1, 01.2015, p. 69-71.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. / Ostergaard, Elsebet; Weraarpachai, Woranontee; Ravn, Kirstine Johanne Theresia; Born, Alfred Peter; Jønson, Lars; Dunø, Morten; Wibrand, Flemming; Shoubridge, Eric A; Vissing, John.

    In: Journal of Medical Genetics, Vol. 52, No. 3, 03.2015, p. 203-7.

    Research output: Contribution to journalJournal articleResearchpeer-review

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