Research output per year
Research output per year
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Dive into the research topics where Elsebet Østergaard is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course
Grønborg, S., Risom, L., Ek, J., Larsen, K. B., Scheie, D., Petkov, Y., Larsen, V. A., Dunø, M., Joensen, F. & Østergaard, E., 2018, In: European Journal of Human Genetics. 26, 10, p. 1512-1520 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder
Barington, M., Risom, L., Ek, J., Uldall, P. & Ostergaard, E., 1 Sept 2018, In: European Journal of Human Genetics. 26, 9, p. 1388-1391 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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., & 37 others, 19 Jul 2018, In: Orphanet Journal of Rare Diseases. 13, 10 p., 120.Research output: Contribution to journal › Journal article › Research › peer-review
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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients
Sofou, K., de Coo, I. F. M., Østergaard, E., Isohanni, P., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., Lönnqvist, T., Bindoff, L. A., Tulinius, M. & Darin, N., Jan 2018, In: Journal of Medical Genetics. 55, 1, p. 21-27 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Pronicka, E., Ropacka-Lesiak, M., Trubicka, J., Pajdowska, M., Linke, M., Ostergaard, E., Saunders, C., Horsch, S., van Karnebeek, C., Yaplito-Lee, J., Distelmaier, F., Õunap, K., Rahman, S., Castelle, M., Kelleher, J., Baris, S., Iwanicka-Pronicka, K., Steward, C. G., Ciara, E., Wortmann, S. B., & 1 others, 1 Nov 2017, In: Journal of Inherited Metabolic Disease. 40, 6, p. 853-860 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Diagnostisk exomsekventering til udredning af syndromer
Østergaard, E., 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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Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling
Grønborg, S., Darin, N., Miranda, M. J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, E., 2017, JIMD Reports. Vol. 33. p. 69-77 9 p. (JIMD Reports).Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
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Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation
Rafiq, J., Duno, M., Østergaard, E., Ravn, K., Vissing, C. R., Wibrand, F. & Vissing, J., 2016, JIMD Reports. Springer, Vol. 25. p. 65-70 (JIMD Reports).Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review