Elsebet Østergaard
Clinical Associate Professor
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Basal molekylærgenetik
Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 15-48Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Communication
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Diagnostisk exomsekventering til udredning af syndromer
Østergaard, Elsebet, Risom, L., Ek, J., Grønborg, S., Dunø, M. & Skovby, F., 2017, In: Ugeskrift for Læger. 179, 5 p., V10160762.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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Kromosomsygdomme
Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 423-430Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education
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Mitochondrial dysfunction induced by variation in the non-coding genome – A proposed workflow to improve diagnostics
du Mee, D. J. M., Bak, M., Østergaard, Elsebet & Rasmussen, Lene Juel, 2020, In: Mitochondrion. 53, p. 255-259Research output: Contribution to journal › Journal article › Research › peer-review
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NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
den Hollander, B., Rasing, A., Post, M. A., Klein, W. M., Oud, M. M., Brands, M. M., de Boer, L., Engelke, U. F. H., van Essen, P., Fuchs, S. A., Haaxma, C. A., Jensson, B. O., Kluijtmans, L. A. J., Lengyel, A., Lichtenbelt, K. D., Østergaard, E., Peters, G., Salvarinova, R., Simon, M. E. H., Stefansson, K. & 6 others, , 2021, In: Frontiers in Neurology. 12, 668640.Research output: Contribution to journal › Journal article › Research › peer-review
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Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease
Zheng, W. Q., Pedersen, S. V., Thompson, K., Bellacchio, E., French, C. E., Munro, B., Pearson, T. S., Vogt, J., Diodato, D., Diemer, T., Ernst, A., Horvath, R., Chitre, M., Ek, J., Wibrand, F., Grange, D. K., Raymond, L., Zhou, X. L., Taylor, R. W. & Østergaard, Elsebet, 2022, In: Human Molecular Genetics. 31, 4, p. 523-534Research output: Contribution to journal › Journal article › Research › peer-review
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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
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Medicinsk genetik
Sunde, Lone (ed.) & Østergaard, Elsebet (ed.), 2022, 3 ed. FADL's Forlag.Research output: Book/Report › Anthology › Communication
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Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia
Strandbech, O. S., Lund, Allan Meldgaard & Østergaard, Elsebet, 2021, In: JIMD Reports. 59, 1, p. 10-15Research output: Contribution to journal › Journal article › Research › peer-review
ID: 33970574
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204
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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
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133
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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
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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