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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2019
  2. E-pub ahead of print

    Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

    Graversen, L., Handrup, M. M., Irving, M., Hove, H., Diness, B. R., Risom, L., Svaneby, D., Aagaard, M. M., Vogel, I., Gjørup, H., Davidsen, M., Hellfritzsch, M. B., Lauridsen, E. & Gregersen, P. A., 11 Apr 2019, In : European Journal of Medical Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

    Gerdes, A-M. A., Risom, L., Kjærgaard, S. & Østergaard, E., 1 Apr 2019, In : Ugeskrift for Laeger. 181, 7A

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle

    Fritzen, A. M., Thøgersen, F. B., Thybo, K., Vissing, C. R., Krag, T. O., Ruiz-Ruiz, C., Risom, L., Wibrand, F., Høeg, L. D., Kiens, B., Duno, M., Vissing, J. & Jeppesen, T. D., 12 Mar 2019, In : Cells. 8, 3, p. 237 253 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 2018
  6. Published

    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., Oct 2018, In : European journal of human genetics : EJHG. 26, 10, p. 1512-1520 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published
  8. Published

    A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

    Schepers, D., Tortora, G., Morisaki, H., MacCarrick, G., Lindsay, M., Liang, D., Mehta, S. G., Hague, J., Verhagen, J., van de Laar, I., Wessels, M., Detisch, Y., van Haelst, M., Baas, A., Lichtenbelt, K., Braun, K., van der Linde, D., Roos-Hesselink, J., McGillivray, G., Meester, J., Maystadt, I., Coucke, P., El-Khoury, E., Parkash, S., Diness, B., Risom, L., Scurr, I., Hilhorst-Hofstee, Y., Morisaki, T., Richer, J., Désir, J., Kempers, M., Rideout, A. L., Horne, G., Bennett, C., Rahikkala, E., Vandeweyer, G., Alaerts, M., Verstraeten, A., Dietz, H., Van Laer, L. & Loeys, B., May 2018, In : Human Mutation. 39, 5, p. 621-634 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published
  10. 2017
  11. Published

    Exome sequencing for syndrome diagnostics

    Østergaard, E., Risom, L., Ek, J., Grønborg, S., Dunø, M. & Skovby, F., 24 Apr 2017, In : Ugeskrift for Laeger. 179, 17, p. V10160762

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. 2016
  13. Published

    Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient

    Schioldan Kusk, M., Damgaard, B., Risom, L., Hansen, B. & Ostergaard, E., 12 Jul 2016, In : Neuropediatrics. 47, 5, p. 332-5

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2015
  15. Published

    Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

    Rasmussen, J., Lund, A. M., Risom, L., Wibrand, F., Gislason, H., Wendelboe Nielsen, O., Køber, L. & Dunø, M., 22 May 2015, In : Molecular Genetics and Metabolism Reports. 1, p. 241-248

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy

    Dali, C. I., Barton, N. W., Farah, M. H., Moldovan, M., Månsson, J-E., Nair, N., Dunø, M., Risom, L., Cao, H., Pan, L., Sellos-Moura, M., Corse, A. M. & Krarup, C., May 2015, In : Annals of Clinical and Translational Neurology. 2, 5, p. 518-33 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published
  18. Published

    Differences in genetic defects and morphology of eye- and limb muscles in mitochondrial myopathy

    Levison, L., Dunø, M., Risom, L., Toft, P. B. & Vissing, J., 2015, In : Acta Ophthalmologica. 93, 4, p. e306-8

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. 2014
  20. Published

    A novel de novo mutation of the mitochondrial tRNA(lys) gene mt.8340G>A associated with pure myopathy

    Jeppesen, T. D., Duno, M., Risom, L., Wibrand, F., Rafiq, J., Krag, T., Jakobsen, J., Andersen, H. & Vissing, J., Feb 2014, In : Neuromuscular disorders : NMD. 24, 2, p. 162-6 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 2013
  22. Published

    Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene

    Vissing, C. R., Duno, M., Olesen, J. H., Rafiq, J., Risom, L., Christensen, E., Wibrand, F. & Vissing, J., 14 May 2013, In : Neurology. 80, 20, p. 1908-10 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption

    Risom, L., Christoffersen, L., Daugaard-Jensen, J., Hove, H. D., Andersen, H. S., Andresen, B. S., Kreiborg, S. & Duno, M., 2013, In : P L o S One. 8, 9, p. e74601

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. 2012
  25. Published

    Guidelines for the genetic diagnosis of hereditary recurrent fevers

    Shinar, Y., Obici, L., Aksentijevich, I., Bennetts, B., Austrup, F., Ceccherini, I., Costa, J. M., De Leener, A., Gattorno, M., Kania, U., Kone-Paut, I., Lezer, S., Livneh, A., Moix, I., Nishikomori, R., Ozen, S., Phylactou, L., Risom, L., Rowczenio, D., Sarkisian, T., van Gijn, M. E., Witsch-Baumgartner, M., Morris, M., Hoffman, H. M., Touitou, I. & European Molecular Genetics Quality Network, 2012, In : Annals of the Rheumatic Diseases. 71, 10, p. 1599-605 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  26. 2008
  27. Published

    Air pollution, oxidative damage to DNA, and carcinogenesis

    Møller, P., Folkmann, J. K., Forchhammer, L., Bräuner, E. V., Danielsen, P. H., Risom, L. & Loft, S., 18 Jul 2008, In : Cancer Letters. 266, 1, p. 84-97 14 p.

    Research output: Contribution to journalReviewResearchpeer-review

  28. Published

    DNA repair phenotype and dietary antioxidant supplementation

    Guarnieri, S., Loft, S., Riso, P., Porrini, M., Risom, L., Poulsen, H. E., Dragsted, L. O. & Møller, P., 1 May 2008, In : British Journal of Nutrition. 99, 5, p. 1018-24 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 25085