Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
51 - 60 out of 198Page size: 10
  1. 2019
  2. Published

    Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

    Schönewolf-Greulich, B., Bisgaard, A., Møller, R. S., Dunø, M., Brøndum-Nielsen, K., Kaur, S., Van Bergen, N. J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J. & Tümer, Asuman Zeynep, 2019, In: Clinical Genetics. 95, 2, p. 221-230

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

  3. Published

    Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Schönewolf-Greulich, B., Bisgaard, A. M., Dunø, M., Jespersgaard, C., Rokkjær, M., Hansen, L. K., Tsoutsou, E., Sofokleous, C., Topcu, M., Kaur, S., Van Bergen, N. J., Brøndum-Nielsen, K., Larsen, M. J., Sørensen, K. P., Christodoulou, J., Fagerberg, C. R. & Tümer, Asuman Zeynep, 2019, In: Clinical Genetics. 95, 3, p. 403-408

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

  4. Published

    Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

    DDD Study, D. S., Feb 2019, In: European Journal of Human Genetics. 27, 2, p. 278-290 13 p.

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

  5. 2018
  6. Published

    Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

    Brioude, F., Kalish, J. M., Mussa, A., Foster, A. C., Bliek, J., Ferrero, G. B., Boonen, S. E., Cole, T., Baker, R., Bertoletti, M., Cocchi, G., Coze, C., De Pellegrin, M., Hussain, K., Ibrahim, A., Kilby, M. D., Krajewska-Walasek, M., Kratz, C. P., Ladusans, E. J., Lapunzina, P. & 21 others, Le Bouc, Y., Maas, S. M., Macdonald, F., Õunap, K., Peruzzi, L., Rossignol, S., Russo, S., Shipster, C., Skórka, A., Tatton-Brown, K., Tenorio, J., Tortora, C., Grønskov, K., Netchine, I., Hennekam, R. C., Prawitt, D., Tümer, Asuman Zeynep, Eggermann, T., Mackay, D. J. G., Riccio, A. & Maher, E. R., 2018, In: Nature Reviews Endocrinology. 14, p. 229-249

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

  7. Published

    Uniparental Disomy and Imprinting Disorders

    Eggermann, T., J.g. Mackay, D. & Tümer, Asuman Zeynep, 2018, In: OBM Genetics. 2, 3, 19 p., 031.

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

  8. Published

    Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

    Hey, C. A. B., Saltõkowa, K. B., Larsen, L. J., Tümer, Asuman Zeynep, Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., 2018, In: Stem Cell Research. 31, p. 235-239

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

  9. Published

    Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

    Hey, C. A. B., Saltõkowa, K. B., Larsen, L. J., Tümer, Asuman Zeynep, Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., 2018, In: Stem Cell Research. 33, p. 46-50

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

  10. Published

    Tab af X-kromosomet kan være et aldersbetinget fænomen hos kvinder

    Jelsig, A. M., Brøndum-Nielsen, K. & Tümer, Asuman Zeynep, 2018, In: Ugeskrift for Laeger. 180, 23, 4 p., V10170731.

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

  11. Published

    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

    Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A-M., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M. & 23 others, Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Asuman Zeynep, Van Balkom, I. D. C. & Hennekam, R. C., 2018, In: Nature Reviews. Genetics. 19, p. 649-666

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

  12. Published

    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

    Monk, D., Morales, J., den Dunnen, J. T., Russo, S., Court, F., Prawitt, D., Eggermann, T., Beygo, J., Buiting, K. & Tümer, Asuman Zeynep, Jan 2018, In: Epigenetics.

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

Previous 12 3 4 5 6 7 8 9 ...20 Next

ID: 7071