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The Capital Region of Denmark - a part of Copenhagen University Hospital

Nature Reviews. Genetics, 1471-0056

Journal

  1. 2018
  2. 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., 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, Z., Van Balkom, I. D. C. & Hennekam, R. C., Oct 2018, In : Nature Reviews. Genetics. 19, 10, p. 649-666 18 p.

    Research output: Contribution to journalReviewResearchpeer-review

  3. 2013
  4. Phenotypic impact of genomic structural variation: Insights from and for human disease

    Weischenfeldt, J., Symmons, O., Spitz, F. & Korbel, J. O., 1 Feb 2013, In : Nature Reviews Genetics. 14, 2, p. 125-138 14 p.

    Research output: Contribution to journalReviewResearchpeer-review

ID: 55097850