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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2011
  2. Published

    Diploid/triploid mosaicism: a rare event or an under-diagnosed syndrome?

    Boonen, S. E., Hoffmann, A. L., Donnai, D., Tümer, Z. & Ravn, K., 22 Jan 2011, In : European Journal of Medical Genetics. 54, 3, p. 374-5 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

    Cingöz, S., Bache, I., Bjerglund, L., Ropers, H-H., Tommerup, N., Jensen, H., Brøndum-Nielsen, K. & Tümer, Z., Jan 2011, In : American Journal of Medical Genetics. Part A. 155A, 1, p. 203-6 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Splice site mutations in the ATP7A gene

    Skjørringe, T., Tümer, Z. & Møller, L. B., 2011, In : P L o S One. 6, 4, p. e18599

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

    Schönewolf-Greulich, B., Ronan, A., Ravn, K., Baekgaard, P., Lodahl, M., Nielsen, K., Rendtorff, N. D., Tranebjaerg, L., Brøndum-Nielsen, K. & Tümer, Z., 2011, In : American Journal of Medical Genetics. Part A. 155A, 12, p. 2964-9 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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