Zeynep Tümer

Zeynep Tümer

Clinical Professor

Member of:

  • Clinical Genetics


Publication year:
All
1 - 7 out of 7Page size: 10
  1. 2017
  2. Published

    Phenotypes and genotypes in individuals with SMC1A variants

    Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A-M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S. & 28 others, Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Asuman Zeynep, Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., Aug 2017, In: American Journal of Medical Genetics. Part A. 173, 8, p. 2108-2125 18 p.

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

  3. Published

    Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters

    Cornelius, N., Wardman, J. H., Hargreaves, I. P., Neergheen, V., Bie, A. S., Tümer, Asuman Zeynep, Nielsen, Jørgen Erik & Nielsen, T. T., May 2017, In: Mitochondrion. 34, p. 103-114 12 p.

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

  4. Published

    Diagnosis and management of Silver-Russell syndrome: first international consensus statement

    Wakeling, E. L., Brioude, F., Lokulo-Sodipe, O., O'Connell, S. M., Salem, J., Bliek, J., Canton, A. P. M., Chrzanowska, K. H., Davies, J. H., Dias, R. P., Dubern, B., Elbracht, M., Giabicani, E., Grimberg, A., Grønskov, K., Hokken-Koelega, A. C. S., Jorge, A. A., Kagami, M., Linglart, A., Maghnie, M. & 16 others, Mohnike, K., Monk, D., Moore, G. E., Murray, P. G., Ogata, T., Petit, I. O., Russo, S., Said, E., Toumba, M., Tümer, Asuman Zeynep, Binder, G., Eggermann, T., Harbison, M. D., Temple, I. K., Mackay, D. J. G. & Netchine, I., Feb 2017, In: Nature reviews. Endocrinology. 13, 2, p. 105-124 20 p.

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

  5. Published

    A 37-year-old Menkes disease patient: Residual ATP7A activity and early copper administration as key factors in beneficial treatment

    Tümer, Asuman Zeynep, Petris, M., Zhu, S., Mercer, J., Bukrinski, J., Bilz, S., Baerlocher, K., Horn, N. & Møller, L. B., 2017, In: Clinical Genetics. 92, 5, p. 548-553

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

  6. 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

  7. 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

  8. 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

ID: 7071