Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor


  1. 2018
  2. Published

    A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

    Grønborg, S., Risom, L., Ek, J., Larsen, Karen Bonde, Scheie, David, Petkov, Y., Larsen, V. A., Dunø, M., Joensen, F. & Østergaard, Elsebet, 2018, In : European Journal of Human Genetics. 26, 10, p. 1512-1520 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder

    Barington, M., Risom, L., Ek, J., Uldall, P. & Østergaard, Elsebet, 2018, In : European Journal of Human Genetics. 26, 9, p. 1388-1391 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Repp, B. M., Mastantuono, E., Alston, C. L., Schiff, M., Haack, T. B., Rötig, A., Ardissone, A., Lombès, A., Catarino, C. B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D., Wenhong, D., Lamantea, E., Østergaard, Elsebet, Pronicka, E., Pierre, G., Smeets, H. J. M., Wittig, I., Scurr, I., de Coo, I. F. M., Moroni, I., Smet, J., Mayr, J. A., Dai, L., de Meirleir, L., Schuelke, M., Zeviani, M., Morscher, R. J., McFarland, R., Seneca, S., Klopstock, T., Meitinger, T., Wieland, T., Strom, T. M., Herberg, U., Ahting, U., Sperl, W., Nassogne, M., Ling, H., Fang, F., Freisinger, P., Van Coster, R., Strecker, V., Taylor, R. W., Häberle, J., Vockley, J., Prokisch, H. & Wortmann, S., 2018, In : Orphanet Journal of Rare Diseases. 13, 10 p., 120.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

    Sofou, K., de Coo, I. F. M., Østergaard, Elsebet, Isohanni, P., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., Lönnqvist, T., Bindoff, L. A., Tulinius, M. & Darin, N., 2018, In : Journal of Medical Genetics. 55, 1, p. 21-27 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 33970574