Elsebet Østergaard

Elsebet Østergaard

Clinical Associate Professor

Member of:

  • Clinical Genetics


Publication year:
All
11 - 20 out of 58Page size: 10
Sort by: 1st author
  1. Published

    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

    Undiagnosed Diseases Network, U. D. N., 2023, In: American Journal of Human Genetics. 110, 8, p. 1394-1413 20 p.

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

  2. 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

  3. Published

    Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay

    Coci, E. G., Galesi, O., Morgan, T., Giglio, S., Østergaard, Elsebet & Elia, M., 2023, In: Cytogenetic and Genome Research. 162, 7, p. 365-371 7 p.

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

  4. Published

    Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family

    Dad, S., Østergaard, Elsebet, Wadt, K., Lunding, J., Eiberg, Hans Rudolf Lytchoff & Møller, L., Apr 2014, In: Clinical Genetics. 85, 4, p. 390-392 3 p.

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

  5. Published

    Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

    Dad, S., Østergaard, Elsebet, Thykjær, T., Albrechtsen, Anders, Ravn, K. J. T., Rosenberg, T. & Møller, L. B., 2010, In: Clinical Genetics. 78, 4, p. 388-397 10 p.

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

  6. 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

  7. Published

    Mitokondriesygdomme

    Duno, M. & Østergaard, Elsebet, 2022, Medicinsk genetik. FADL's Forlag, p. 385-392

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education

  8. Published

    Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

    Gerdes, Anne-Marie Axø, Risom, L., Kjærgaard, S. & Østergaard, Elsebet, 2019, In: Ugeskrift for Laeger. 181, 7A, 5 p., V11180756.

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

  9. Published

    Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling

    Grønborg, S., Darin, N., Miranda, Maria J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, Elsebet, 2016, JIMD Reports. Vol. 33. p. 69-77 9 p. (JIMD Reports).

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

  10. 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 journal › Journal article › Research › peer-review

Previous 1 2 3 4 5 6 Next

ID: 33970574