Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2011
  2. Published

    Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

    Grønskov, K., Poole, R. L., Hahnemann, J. M. D., Thomson, J., Tümer, Z., Brøndum-Nielsen, K., Murphy, R., Ravn, K., Melchior, L., Dedic, A., Dolmer, B. S., Temple, I. K., Boonen, S. E. & Mackay, D. J. G., May 2011, In : Journal of Medical Genetics. 48, 5, p. 308-11 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis

    Nytofte, N. S., Serrano, M. A., Monte, M. J., Gonzalez-Sanchez, E., Tumer, Z., Ladefoged, K., Briz, O. & Marin, J. J. G., Apr 2011, In : Journal of Medical Genetics. 48, 4, p. 219-25 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

    Gilling, M., Lind-Thomsen, A., Mang, Y., Bak, M., Møller, M., Ullmann, R., Kristoffersson, U., Kalscheuer, V. M., Henriksen, K. F., Bugge, M., Tümer, Z. & Tommerup, N., 24 Mar 2011, In : European Journal of Medical Genetics. 54, 4, p. e383-8

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Clinical utility gene card for Axenfeld-Rieger syndrome

    Weisschuh, N., De Baere, E., Wissinger, B. & Tümer, Z., Mar 2011, In : European journal of human genetics : EJHG. 19, 3

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 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

  7. 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

  8. 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

  9. 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

Previous 1 2 3 Next

ID: 36882422