Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 10 out of 10Page size: 10
  1. 2012
  2. Published

    Centrifugally driven microfluidic disc for detection of chromosomal translocations

    Brøgger, A. L., Kwasny, D., Bosco, F., Silahtaroglu, Asli, Tümer, Asuman Zeynep, Boisen, A. & Svendsen, W. E., 21 Nov 2012, In: Lab On a Chip. 12, 22, p. 4628-4634 7 p.

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

  3. Published

    Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

    Ravn, K., Lindquist, Suzanne Granhøj, Nielsen, K., Dahm, T. & Tümer, Asuman Zeynep, Sep 2012, In: Clinical Genetics. 82, 3, p. 292-294 3 p.

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

  4. Published

    Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

    Jønch, A. E., Larsen, L. G., Pouplier, S., Nielsen, K., Brøndum-Nielsen, K. & Tümer, Asuman Zeynep, Sep 2012, In: American Journal of Medical Genetics. Part A. 158A, 9, p. 2302-8 7 p.

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

  5. Published

    De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature

    Becker, K., Di Donato, N., Holder-Espinasse, M., Andrieux, J., Cuisset, J., Vallée, L., Plessis, G., Jean, N., Delobel, B., Thuresson, A., Annerén, G., Ravn, K., Tümer, Asuman Zeynep, Tinschert, S., Schrock, E., Jønch, A. E. & Hackmann, K., Aug 2012, In: European Journal of Medical Genetics. 55, 8-9, p. 490-497 8 p.

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

  6. Published

    Advanced microtechnologies for detection of chromosome abnormalities by fluorescent in situ hybridization

    Kwasny, D., Vedarethinam, I., Shah, P. J., Dimaki, M., Silahtaroglu, Asli, Tümer, Asuman Zeynep & Svendsen, W. E., Jun 2012, In: Biomedical Microdevices. 14, 3, p. 453-60 8 p.

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

  7. Published

    Den genetiske baggrund for øjenmisdannelserne mikroftalmi og anoftalmi

    Roos, L. K. S., Grønskov, K., Jensen, H. & Tümer, Asuman Zeynep, 12 Mar 2012, In: Ugeskrift for Laeger. 174, 11, p. 713-6 4 p.

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

  8. Published

    [The genetics of Gilles de la Tourette syndrome.]

    Bertelsen, B., Melchior, L., Debes, Nanette M Monique Mol, Skov, L., Brøndum-Nielsen, K. & Tümer, Asuman Zeynep, 20 Feb 2012, In: Ugeskrift for Laeger. 174, 8, p. 484-487 4 p.

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

  9. Published

    Clinical expression of Menkes disease in females with normal karyotype

    Møller, L. B., Lenartowicz, M., Zabot, M., Josiane, A., Burglen, L., Bennett, C., Riconda, D., Fisher, R., Janssens, S., Mohammed, S., Ausems, M., Tümer, Asuman Zeynep, Horn, N. & Jensen, T. G., Jan 2012, In: Orphanet Journal of Rare Diseases. 7, p. 6

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

  10. Published

    No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

    Boonen, S. E., Hahnemann, J. M. D., Mackay, D., Tommerup, Niels, Brøndum-Nielsen, K., Tümer, Asuman Zeynep & Grønskov, K., Jan 2012, In: European Journal of Human Genetics. 20, 1, p. 119-21 3 p.

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

  11. Published

    Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

    Tümer, Asuman Zeynep, Bertelsen, B., Gredal, O., Magyari, M., Nielsen, K. C., Lucamp, Grønskov, K. & Brøndum-Nielsen, K., Jan 2012, In: Neurobiology of Aging. 33, 1, p. 208.e1-5

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

ID: 7071