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

BMC Medical Genetics

Journal

  1. 2017
  2. Published
  3. 2016
  4. Published

    Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

    Bak, M., Boonen, S. E., Dahl, C., Hahnemann, J. M. D., Mackay, D. J. D. G., Tümer, Z., Grønskov, K., Temple, I. K., Guldberg, P. & Tommerup, N., 2016, In : BMC Medical Genetics. 17, p. 29

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 2015
  6. Published

    Case report a novel KERA mutation associated with cornea plana and its predicted effect on protein function

    Roos, L., Bertelsen, B., Harris, P., Bygum, A., Jensen, H., Grønskov, K. & Tümer, Z., 2015, In : BMC Medical Genetics. 16, p. 40

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Common variants in LEPR, IL6, AMD1, and NAMPT do not associate with risk of juvenile and childhood obesity in Danes: a case-control study

    Hollensted, M., Ahluwalia, T. V. S., Have, C. T., Grarup, N., Fonvig, C. E., Nielsen, T. R. H., Trier, C., Paternoster, L., Pedersen, O., Holm, J-C., Sørensen, T. I. A. & Hansen, T., 2015, In : BMC Medical Genetics. 16, 1, p. 105

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Impact of PTBP1 rs11085226 on glucose-stimulated insulin release in adult Danes

    Hansen, T. H., Vestergaard, H., Jørgensen, T., Jørgensen, M. E., Lauritzen, T., Brandslund, I., Christensen, C., Pedersen, O. B., Hansen, T. & Gjesing, A. P., 2015, In : BMC Medical Genetics. 16, 1, p. 17

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 2009
  10. Published

    Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels

    Domanska, K., Carlsson, C., Bendahl, P-O. & Nilbert, M., 2009, In : BMC Medical Genetics. 10, p. 30 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2008
  12. Published

    Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

    Nilbert, M., Kristoffersson, U., Ericsson, M., Johannsson, O., Rambech, E. & Mangell, P., 2008, In : BMC Medical Genetics. 9, 1, p. 101

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 53405622