Elsebet Østergaard
Clinical Associate Professor
- 2013
- 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
- 2010
- 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
- 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
- 2009
- 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
- 2008
- 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
- 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
- 2005
- 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
- 1996
- 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
ID: 33970574
Most downloads
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205
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Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
134
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A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
70
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Research output: Contribution to journal › Journal article › Research › peer-review
Published