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The Capital Region of Denmark - a part of Copenhagen University Hospital

Molecular Genetics & Genomic Medicine, 2324-9269

Journal

  1. 2020
  2. Published

    Germline whole genome sequencing in pediatric oncology in Denmark-Practitioner perspectives

    Byrjalsen, A., Stoltze, U. K., Castor, A. & Wahlberg, A., Aug 2020, In: Molecular Genetics & Genomic Medicine. 8, 8, p. e1276 e1276.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Serotonin transporter gene (SLC6A4) variation and sensory processing sensitivity-Comparison with other anxiety-related temperamental dimensions

    Licht, C. L., Mortensen, E. L., Hjordt, L. V., Stenbaek, D. S., Arentzen, T. E., Nørremølle, A. & Knudsen, G. M., Aug 2020, In: Molecular Genetics & Genomic Medicine. 8, 8, p. e1352 e1352.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2019
  5. Published

    Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21

    Pelleri, M. C., Cicchini, E., Petersen, M. B., Tranebjaerg, L., Mattina, T., Magini, P., Antonaros, F., Caracausi, M., Vitale, L., Locatelli, C., Seri, M., Strippoli, P., Piovesan, A. & Cocchi, G., Aug 2019, In: Molecular Genetics & Genomic Medicine. 7, 8, p. e797

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2018
  7. Published

    Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension

    Abbasi, Y., Jabbari, J., Jabbari, R., Glinge, C., Izadyar, S. B., Spiekerkoetter, E., Zamanian, R. T., Carlsen, J. & Tfelt-Hansen, J., Sep 2018, In: Molecular Genetics & Genomic Medicine. 6, 5, p. 835-844 10 p.

    Research output: Contribution to journalReviewpeer-review

  8. Published

    Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families

    Taleb, K., Lauridsen, E., Daugaard-Jensen, J., Nieminen, P. & Kreiborg, S., May 2018, In: Molecular Genetics & Genomic Medicine. 6, 3, p. 339-349

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 2016
  10. Published
  11. Published

    Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Dad, S., Rendtorff, N. D., Tranebjærg, L., Grønskov, K., Karstensen, H. G., Brox, V., Nilssen, Ø., Roux, A-F., Rosenberg, T., Jensen, H. & Møller, L. B., Sep 2016, In: Molecular Genetics & Genomic Medicine. 4, 5, p. 527-539 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. 2015
  13. Published

    The pathogenicity of genetic variants previously associated with left ventricular non-compaction

    Abbasi, Y., Jabbari, J., Jabbari, R., Yang, R-Q., Risgaard, B., Køber, L., Haunsø, S. & Tfelt-Hansen, J., Mar 2015, In: Molecular Genetics & Genomic Medicine. 4, 2, p. 135-42 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2014
  15. Published

    Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein

    Dominguez-Valentin, M., Drost, M., Therkildsen, C., Rambech, E., Ehrencrona, H., Angleys, M., Lau Hansen, T., de Wind, N., Nilbert, M. & Juel Rasmussen, L., Jul 2014, In: Molecular Genetics & Genomic Medicine. 2, 4, p. 352-5 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. 2013
  17. Published

    MT-CYB mutations in hypertrophic cardiomyopathy

    Hagen, C. M., Aidt, F. H., Havndrup, O., Hedley, P. L., Jespersgaard, C., Jensen, M., Kanters, J. K., Moolman-Smook, J. C., Møller, D. V., Bundgaard, H. & Christiansen, M., May 2013, In: Molecular Genetics & Genomic Medicine. 1, 1, p. 54-65 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 54207196