Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor


  1. 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

  2. Published

    A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood. / Born, Alfred Peter; Duno, Morten; Rafiq, Jabin; Risom, Lotte; Wibrand, Flemming; Østergaard, Elsebet; Vissing, John.

    In: European Journal of Paediatric Neurology, Vol. 19, No. 1, 01.2015, p. 69-71.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. / Østergaard, Elsebet; Schwartz, Marianne; Batbayli, Mustafa; Christensen, Ernst; Hjalmarson, Ola; Kollberg, Gittan; Holme, Elisabeth.

    In: European Journal of Pediatrics, Vol. 169, No. 2, 01.02.2010, p. 201-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 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

  5. Published

    A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. / Pronicka, Ewa; Ropacka-Lesiak, Mariola; Trubicka, Joanna; Pajdowska, Magdalena; Linke, Markus; Ostergaard, Elsebet; Saunders, Carol; Horsch, Sandra; van Karnebeek, Clara; Yaplito-Lee, Joy; Distelmaier, Felix; Õunap, Katrin; Rahman, Shamima; Castelle, Martin; Kelleher, John; Baris, Safa; Iwanicka-Pronicka, Katarzyna; Steward, Colin G; Ciara, Elżbieta; Wortmann, Saskia B; Additional individual contributors.

    In: Journal of Inherited Metabolic Disease, Vol. 40, No. 6, 11.2017, p. 853-860.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. / Boonen, Susanne E; Pörksen, Sven; Mackay, Deborah Jg; Oestergaard, Elsebet; Olsen, Birthe; Brøndum-Nielsen, Karen; Temple, I Karen; Hahnemann, Johanne Md.

    In: European Journal of Human Genetics, Vol. 16, No. 4, 2008, p. 453-61.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. 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

  8. Published

    Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder. / Janssen, Rolf J R J; Distelmaier, Felix; Smeets, Roel; Wijnhoven, Tessa; Østergaard, Elsebet; Jaspers, Nicolaas G J; Raams, Anja; Kemp, Stephan; Rodenburg, Richard J T; Willems, Peter H M G; van den Heuvel, Lambert P W J; Smeitink, Jan A M; Nijtmans, Leo G J.

    In: Human Molecular Genetics, Vol. 18, No. 18, 2009, p. 3365-74.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Diagnostisk exomsekventering til udredning af syndromer. / Østergaard, Elsebet; Risom, Lotte; Ek, Jakob; Grønborg, Sabine; Dunø, Morten; Skovby, Flemming.

    In: Ugeskrift for Læger, Vol. 179, V10160762, 2017.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation. / Rafiq, Jabin; Duno, Morten; Østergaard, Elsebet; Ravn, Kirstine; Vissing, Christoffer R; Wibrand, Flemming; Vissing, John.

    JIMD Reports. Vol. 25 Springer, 2016. p. 65-70 (JIMD Reports).

    Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review

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