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  1. The Capital Region of Denmark
  2. Journals
  3. Molecular Syndromology
  4. Publications
The Capital Region of Denmark - a part of Copenhagen University Hospital

Molecular Syndromology, ‎1661-8769

Journal

1 - 3 out of 3Page size: 50
  1. 2020
  2. Published

    Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

    Bayat, A., Dunø, M., Kirchhoff, M., Jørgensen, F. S., Nishimura, G. & Hove, H. B., Jun 2020, In: Molecular Syndromology. 11, 2, p. 83-89 7 p.

    Research output: Contribution to journal › Journal article › peer-review

  3. 2016
  4. Published

    Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

    Møller, R. S., Larsen, L. H. G., Johannesen, K. M., Talvik, I., Talvik, T., Vaher, U., Miranda, M. J., Farooq, M., Nielsen, J. E. K., Svendsen, L. L., Kjelgaard, D. B., Linnet, K. M., Hao, Q., Uldall, P., Frangu, M., Tommerup, N., Baig, S. M., Abdullah, U., Born, A. P., Gellert, P. & 12 others, Nikanorova, M., Olofsson, K., Jepsen, B., Marjanovic, D., Al-Zehhawi, L. I. K., Peñalva, S. J., Krag-Olsen, B., Brusgaard, K., Hjalgrim, H., Rubboli, G., Pal, D. K. & Dahl, H. A., Sep 2016, In: Molecular Syndromology. 7, 4, p. 210-219 10 p.

    Research output: Contribution to journal › Journal article › peer-review

  5. 2014
  6. Published

    Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies

    Zink, A. M., Wohlleber, E., Engels, H., Rødningen, O. K., Ravn, K., Heilmann, S., Rehnitz, J., Katzorke, N., Kraus, C., Blichfeldt, S., Hoffmann, P., Reutter, H., Brockschmidt, F. F., Kreiß-Nachtsheim, M., Vogt, P. H., Prescott, T. E., Tümer, Z. & Lee, J. A., Feb 2014, In: Molecular Syndromology. 5, 2, p. 65-75 11 p.

    Research output: Contribution to journal › Journal article › peer-review

ID: 31753050