Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
71 - 80 out of 201Page size: 10
  1. 2017
  2. Published

    A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome

    Boyle, M. I., Jespersgaard, C., Nazaryan, L., Bisgaard, A. & Tümer, Asuman Zeynep, 2017, In: Clinical Genetics. 91, 4, p. 647-649

    Research output: Contribution to journal › Letter › Research › peer-review

  3. Published

    Recent Advances in Imprinting Disorders

    Soellner, L., Begemann, M., Mackay, D. J. G., Grønskov, K., Tümer, Asuman Zeynep, Maher, E. R., Temple, I. K., Monk, D., Riccio, A., Linglart, A., Netchine, I. & Eggermann, T., 2017, In: Clinical Genetics. 91, 1, p. 3-13

    Research output: Contribution to journal › Review › Research › peer-review

  4. Published

    The D313Y variant in the GLA gene–no evidence of a pathogenic role in Fabry disease

    Hasholt, Lis Frydenreich, Ballegaard, Martin, Bundgård, Henning, Christiansen, M., Law, Ian, Lund, Allan Meldgaard, Nørremølle, Anne, Krogh Rasmussen, A., Ravn, K., Tümer, Asuman Zeynep, Wibrand, F. & Feldt-Rasmussen, Ulla, 2017, In: Scandinavian Journal of Clinical and Laboratory Investigation. 77, 8, p. 617-621 5 p.

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

  5. 2016
  6. Published

    CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark

    Gronskov, K., Redo-Riveiro, A., Sandfeld, Lisbeth Jelveh, Zibrandtsen, N., Harris, P., Bach-Holm, Daniella & Tümer, Asuman Zeynep, Dec 2016, In: Journal of Glaucoma. 25, 12, p. 926-930 5 p.

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

  7. Published

    Investigation of SNP rs2060546 Immediately Upstream to NTN4 in a Danish Gilles de la Tourette Syndrome Cohort

    Padmanabhuni, S. S., Houssari, R., Esserlind, A., Olesen, Jes, Werge, Thomas, Hansen, T. F., Bertelsen, B., Tsetsos, F., Paschou, P. & Tümer, Asuman Zeynep, Nov 2016, In: Frontiers in Neuroscience. 10, 7 p., 531.

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

  8. Published

    Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3

    Hansen, S. K., Stummann, T. C., Madsen, Helena Borland, Hasholt, Lis Frydenreich, Tümer, Asuman Zeynep, Nielsen, Jørgen Erik, Rasmussen, M. A., Nielsen, T. T., Daechsel, J. C. A., Fog, K. & Hyttel, P., Sep 2016, In: Stem Cell Research. 17, 2, p. 306-317 12 p.

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

  9. Published

    Monozygotic twins discordant for narcolepsy type 1 and multiple sclerosis

    Jennum, Poul, Kornum, Birgitte Rahbek, Issa, N. M., Gammeltoft, S., Tommerup, Niels, Morling, Niels, Tümer, Asuman Zeynep & Knudsen, S., Aug 2016, In: Neurology: Neuroimmunology & Neuroinflammation. 3, 4, 2 p., e249.

    Research output: Contribution to journal › Letter › Research › peer-review

  10. Published

    The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    Schönewolf-Greulich, B., Tejada, M., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum-Nielsen, K., Pfundt, R., Ravn, K. J. T., Maortua, H., Gener, B., Martínez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A. & Tümer, Asuman Zeynep, Jun 2016, In: Clinical Genetics. 89, 6, p. 733-738 6 p.

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

  11. Published

    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

    Hansen, S. K., Madsen, Helena Borland, Hasholt, Lis Frydenreich, Tümer, Asuman Zeynep, Nielsen, Jørgen Erik, Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., May 2016, In: Stem Cell Research. 16, 3, p. 553-556 4 p.

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

  12. Published

    Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11

    Hansen, S. K., Madsen, Helena Borland, Hasholt, Lis Frydenreich, Tümer, Asuman Zeynep, Nielsen, Jørgen Erik, Rasmussen, M. A., Nielsen, T. T., Stummann, T. C., Fog, K. & Hyttel, P., May 2016, In: Stem Cell Research. 16, 3, p. 589-592 4 p.

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

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