Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


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

    Development, behaviour and autism in individuals with SMC1A variants

    SMC1A Consortium, S. C., 2019, In: Journal of Child Psychology and Psychiatry and Allied Disciplines. 60, 3, p. 305-313 9 p.

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

  3. Published

    Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

    Hey, C. A. B., Larsen, L. J., Tümer, Asuman Zeynep, Brøndum-Nielsen, K., Grønskov, K., Hjortshøj, T. D. & Møller, L. B., 2019, In: Stem Cell Research. 41, 101594.

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

  4. 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

  5. 2018
  6. 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

  7. 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

  8. Published

    Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

    Wolfe, K., McQuillin, A., Alesi, V., Boudry Labis, E., Cutajar, P., Dallapiccola, B., Dentici, M. L., Dieux-Coeslier, A., Duban-Bedu, B., Duelund Hjortshøj, T., Goel, H., Loddo, S., Morrogh, D., Mosca-Boidron, A-L., Novelli, A., Olivier-Faivre, L., Parker, J., Parker, M. J., Patch, C., Pelling, A. L. & 8 others, Smol, T., Tümer, Asuman Zeynep, Vanakker, O., van Haeringen, A., Vanlerberghe, C., Strydom, A., Skuse, D. & Bass, N., 2018, In: American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics. 177, 4, p. 397-405 9 p.

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

  9. 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

  10. 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

  11. 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

  12. Published

    Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

    Nazaryan-Petersen, L., Eisfeldt, J., Pettersson, M., Lundin, J., Nilsson, D., Wincent, J., Lieden, A., Lovmar, L., Ottosson, J., Gacic, J., Mäkitie, O., Nordgren, A., Vezzi, F., Wirta, V., Käller, M., Hjortshøj, T. D., Jespersgaard, C., Houssari, R., Pignata, L., Bak, M. & 4 others, Tommerup, Niels, Lundberg, E. S., Tümer, Asuman Zeynep & Lindstrand, A., 2018, In: PLOS Genetics. 14, 11, 25 p., e1007780.

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

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

ID: 7071