Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


Publication year:
All
51 - 58 out of 58Page size: 10
  1. 2013
  2. Published

    Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

    Grønskov, K., Dooley, C. M., Østergaard, Elsebet, Kelsh, R. N., Hansen, Lars, Levesque, M. P., Vilhelmsen, K., Møllgård, Kjeld, Stemple, D. L. & Rosenberg, T., 7 Mar 2013, In: American Journal of Human Genetics. 92, 3, p. 415-21 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. 2010
  4. Published

    Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

    Dad, S., Østergaard, Elsebet, Thykjær, T., Albrechtsen, Anders, Ravn, K. J. T., Rosenberg, T. & Møller, L. B., 2010, In: Clinical Genetics. 78, 4, p. 388-397 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

    A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

    Østergaard, Elsebet, Schwartz, M., Batbayli, M., Christensen, E., Hjalmarson, O., Kollberg, G. & Holme, E., 1 Feb 2010, In: European Journal of Pediatrics. 169, 2, p. 201-5 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. 2009
  7. Published

    Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

    Janssen, R. J. R. J., Distelmaier, F., Smeets, R., Wijnhoven, T., Østergaard, Elsebet, Jaspers, N. G. J., Raams, A., Kemp, S., Rodenburg, R. J. T., Willems, P. H. M. G., van den Heuvel, L. P. W. J., Smeitink, J. A. M. & Nijtmans, L. G. J., 2009, In: Human Molecular Genetics. 18, 18, p. 3365-74 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  8. 2008
  9. Published

    Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

    Boonen, S. E., Pörksen, S., Mackay, D. J., Østergaard, Elsebet, Olsen, B., Brøndum-Nielsen, K., Temple, I. K. & Hahnemann, J. M., 2008, In: European Journal of Human Genetics. 16, 4, p. 453-61 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. Published

    Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients

    Thomsen, L. L., Østergaard, Elsebet, Bjornsson, A., Stefansson, H., Fasquel, A. C., Gulcher, J., Stefansson, K. & Olesen, J., 2008, In: Cephalalgia. 28, 9, p. 914-921 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  11. 2005
  12. Published

    Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes

    Duchatelet, S., Østergaard, Elsebet, Cortes, Dina, Lemainque, A. & Julier, C., 1 Jan 2005, In: Human Molecular Genetics. 14, 1, p. 1-5 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  13. 1996
  14. Published

    The susceptibility of dental plaque bacteria to the herbs included in Longo Vital®

    Larsen, Tove, Fiehn, Nils-Erik & Østergaard, Elsebet, 1 May 1996, In: Microbial Ecology in Health and Disease. 9, 3, p. 91-95 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

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