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, Sabine; Risom, Lotte; Ek, Jakob; Larsen, Karen Bonde; Scheie, David; Petkov, Yanko; Larsen, Vibeke André; Dunø, Morten; Joensen, Fróði; Østergaard, Elsebet.

    In: European Journal of Human Genetics, Vol. 26, No. 10, 2018, p. 1512-1520.

    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, Maria; Risom, Lotte; Ek, Jakob; Uldall, Peter; Ostergaard, Elsebet.

    In: European Journal of Human Genetics, Vol. 26, No. 9, 2018, p. 1388-1391.

    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, Birgit M; Mastantuono, Elisa; Alston, Charlotte L; Schiff, Manuel; Haack, Tobias B; Rötig, Agnes; Ardissone, Anna; Lombès, Anne; Catarino, Claudia B; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J M; Wittig, Ilka; Scurr, Ingrid; de Coo, Irenaeus F M; Moroni, Isabella; Smet, Joél; Mayr, Johannes A; Dai, Lifang; de Meirleir, Linda; Schuelke, Markus; Zeviani, Massimo; Morscher, Raphael J; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang, Fang; Freisinger, Peter; Van Coster, Rudy; Strecker, Valentina; Taylor, Robert W; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia.

    In: Orphanet Journal of Rare Diseases, Vol. 13, 120, 2018.

    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, Kalliopi; de Coo, Irenaeus F M; Østergaard, Elsebet; Isohanni, Pirjo; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; Lönnqvist, Tuula; Bindoff, Laurence Albert; Tulinius, Már; Darin, Niklas.

    In: Journal of Medical Genetics, Vol. 55, No. 1, 2018, p. 21-27.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 33970574