Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


Publication year:
All
41 - 50 out of 53Page size: 10
Sort by: Title
  1. Published

    Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report

    Guldberg, Frederikke, Larsen, C. C., Østergaard, Elsebet, Carlsen, Jonathan Frederik, Juhler, Marianne & Munch, Tina Nørgaard, 2024, In: Child's Nervous System. 40, 3, p. 947-951 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  2. Published

    Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes

    Duchatelet, S., Østergaard, Elsebet, Cortes, Dina, Lemainque, A. & Julier, C., 1 Jan 2005, In: Human Molecular Genetics. 14, 1, p. 1-5 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

    Parasyri, M., Brandstroem, P., Uusimaa, J., Østergaard, Elsebet, Hikmat, O., Isohanni, P., Naess, K., de Coo, I. F. M., Nascimento Osorio, A., Nuutinen, M., Lindberg, C., Bindoff, L. A., Tulinius, M., Darin, N. & Sofou, K., 2022, In: Kidney diseases. 8, 2, 12 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  4. Published

    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

  5. Published

    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

    Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M. E., Brodtkorb, E., Østergaard, Elsebet, de Coo, I. F. M., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S. & Bindoff, L. A., 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 726-736 11 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. Published

    Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

    Carrozzo, R., Verrigni, D., Rasmussen, M., de Coo, R., Amartino, H., Bianchi, M., Buhas, D., Mesli, S., Naess, K., Born, A. P., Woldseth, B., Prontera, P., Batbayli, M., Ravn, K., Joensen, F., Cordelli, D. M., Santorelli, F. M., Tulinius, M., Darin, N., Duno, M. & 14 others, Jouvencel, P., Burlina, A., Stangoni, G., Bertini, E., Redonnet-Vernhet, I., Wibrand, F., Dionisi-Vici, C., Uusimaa, J., Vieira, P., Osorio, A. N., McFarland, R., Taylor, R. W., Holme, E. & Østergaard, Elsebet, Mar 2016, In: Journal of Inherited Metabolic Disease. 39, 2, p. 243-52 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Published

    The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

    Kumble, S. & Undiagnosed Diseases Network, U. D. N., 2022, In: Human Mutation. 43, 2, p. 266-282

    Research output: Contribution to journal › Journal article › Research › peer-review

  8. Published

    The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

    Ng, Y. S., Alston, C. L., Diodato, D., Morris, A. D., Ulrick, N., Kmoch, S., Houštěk, J., Martinelli, D., Haghighi, A., Atiq, M., Gamero, M. A., Garcia-Martinez, E., Kratochvílová, H., Santra, S., Brown, R. M., Brown, G. K., Ragge, N., Monavari, A., Pysden, K., Ravn, K. & 14 others, Casey, J. P., Khan, A., Chakrapani, A., Vassallo, G., Simons, C., McKeever, K., O'Sullivan, S., Childs, A., Østergaard, Elsebet, Vanderver, A., Goldstein, A., Vogt, J., Taylor, R. W. & McFarland, R., Nov 2016, In: Journal of Medical Genetics. 53, 11, p. 768-775

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. Published

    The impact of gender, puberty, and pregnancy in patients with POLG disease

    Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M. E., Samsonsen, C., Brodtkorb, E., Østergaard, Elsebet, de Coo, R., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S. & Bindoff, L. A., 2020, In: Annals of Clinical and Translational Neurology. 7, 10, p. 2019-2025 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. Published

    The postgraduate medical educational climate assessed by the Danish Residency Educational Climate Test (DK-RECT): a validation and cross-sectional observational study

    Jacobsen, Rikke Vita Borre, Boor, K., Christensen, Karl Bang, Ung, V. H., Carlsen, Jørn, Kirk, Ole, Dziegiel, Morten Hanefeld, Østergaard, Elsebet, Rochat, Per Bjørnstad, Albrecht-Beste, Elisabeth, Droogh, M., Lapperre, T. S., Scheele, F. & Sorensen, Jette Led , 2023, In: BMC Medical Education. 23, 1, 13 p., 943.

    Research output: Contribution to journal › Journal article › Research › peer-review

Previous 1 2 3 4 5 6 Next

ID: 33970574