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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2018
  2. Published

    A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

    Grønborg, S., Risom, L., Ek, J., Larsen, K. B., Scheie, D., Petkov, Y., Larsen, V. A., Dunø, M., Joensen, F. & Østergaard, E., Oct 2018, In : European journal of human genetics : EJHG. 26, 10, p. 1512-1520 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

    Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Ajmone, P. F., Badura-Stronka, M., Baldo, C., Baldi, M., Bayat, A., Bigoni, S., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G., Cuturilo, G., De Brasi, D., Devriendt, K., Dinulos, M. B., Hjortshøj, T. D., Epifanio, R., Faravelli, F., Fiumara, A., Formisano, D., Giordano, L., Grasso, M., Grønborg, S., Iodice, A., Iughetti, L., Kuburovic, V., Kutkowska-Kazmierczak, A., Lacombe, D., Lo Rizzo, C., Luchetti, A., Malbora, B., Mammi, I., Mari, F., Montorsi, G., Moutton, S., Møller, R. S., Muschke, P., Nielsen, J. E. K., Obersztyn, E., Pantaleoni, C., Pellicciari, A., Pisanti, M. A., Prpic, I., Poch-Olive, M. L., Raviglione, F., Renieri, A., Ricci, E., Rivieri, F., Santen, G. W., Savasta, S., Scarano, G., Schanze, I., Selicorni, A., Silengo, M., Smigiel, R., Spaccini, L., Sorge, G., Szczaluba, K., Tarani, L., Tone, L. G., Toutain, A., Trimouille, A., Valera, E. T., Vergano, S. S., Zanotta, N., Zenker, M., Conidi, A., Zollino, M., Rauch, A., Zweier, C. & Garavelli, L., Sep 2018, In : Genetics in medicine : official journal of the American College of Medical Genetics. 20, 9, p. 965-975

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2017
  5. Published

    Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

    Garavelli, L., Ivanovski, I., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Baldo, C., Bayat, A., Belligni, E., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G., Cuturilo, G., Devriendt, K., Dinulos, M. B., Djuric, O., Epifanio, R., Faravelli, F., Formisano, D., Giordano, L., Grasso, M., Grønborg, S., Iodice, A., Iughetti, L., Lacombe, D., Maggi, M., Malbora, B., Mammi, I., Moutton, S., Møller, R., Muschke, P., Napoli, M., Pantaleoni, C., Pascarella, R., Pellicciari, A., Poch-Olive, M. L., Raviglione, F., Rivieri, F., Russo, C., Savasta, S., Scarano, G., Selicorni, A., Silengo, M., Sorge, G., Tarani, L., Tone, L. G., Toutain, A., Trimouille, A., Valera, E. T., Vergano, S. S., Zanotta, N., Zollino, M., Dobyns, W. B. & Paciorkowski, A. R., Jun 2017, In : Genetics in medicine : official journal of the American College of Medical Genetics. 19, 6, p. 691-700

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    Exome sequencing for syndrome diagnostics

    Østergaard, E., Risom, L., Ek, J., Grønborg, S., Dunø, M. & Skovby, F., 24 Apr 2017, In : Ugeskrift for Laeger. 179, 17, p. V10160762

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H

    Mulkey, S. B., Ben-Zeev, B., Nicolai, J., Carroll, J. L., Grønborg, S., Jiang, Y-H., Joshi, N., Kelly, M., Koolen, D. A., Mikati, M. A., Park, K., Pearl, P. L., Scheffer, I. E., Spillmann, R. C., Taglialatela, M., Vieker, S., Weckhuysen, S., Cooper, E. C. & Cilio, M. R., Mar 2017, In : Epilepsia. 58, 3, p. 436-445 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Detection of Paroxysms in Long-Term, Single-Channel EEG-Monitoring of Patients with Typical Absence Seizures

    Kjaer, T. W., Sorensen, H. B. D., Groenborg, S., Pedersen, C. R. & Duun-Henriksen, J., 2017, In : IEEE journal of translational engineering in health and medicine. 5, p. 2000108

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling

    Grønborg, S., Darin, N., Miranda, M. J., Damgaard, B., Cayuela, J. A., Oldfors, A., Kollberg, G., Hansen, T. V. O., Ravn, K., Wibrand, F. & Østergaard, E., 2017, In : JIMD Reports. 33, p. 69-77

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2015
  11. Published
  12. Published

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Maas, S. M., Shaw, A. C., Bikker, H., Lüdecke, H-J., van der Tuin, K., Badura-Stronka, M., Belligni, E., Biamino, E., Bonati, M. T., Carvalho, D. R., Cobben, J., de Man, S. A., Den Hollander, N. S., Di Donato, N., Garavelli, L., Grønborg, S., Herkert, J. C., Hoogeboom, A. J. M., Jamsheer, A., Latos-Bielenska, A., Maat-Kievit, A., Magnani, C., Marcelis, C., Mathijssen, I. B., Nielsen, M., Otten, E., Ousager, L. B., Pilch, J., Plomp, A., Poke, G., Poluha, A., Posmyk, R., Rieubland, C., Silengo, M., Simon, M., Steichen, E., Stumpel, C., Szakszon, K., Polonkai, E., van den Ende, J., van der Steen, A., van Essen, T., van Haeringen, A., van Hagen, J. M., Verheij, J. B. G. M., Mannens, M. M. & Hennekam, R. C., May 2015, In : European Journal of Medical Genetics. 58, 5, p. 279-92 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2014
  14. Published

    Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

    Van Scherpenzeel, M., Timal, S., Rymen, D., Hoischen, A., Wuhrer, M., Hipgrave-Ederveen, A., Grunewald, S., Peanne, R., Saada, A., Edvardson, S., Grønborg, S., Ruijter, G., Kattentidt-Mouravieva, A., Brum, J. M., Freckmann, M-L., Tomkins, S., Jalan, A., Prochazkova, D., Ondruskova, N., Hansikova, H., Willemsen, M. A., Hensbergen, P. J., Matthijs, G., Wevers, R. A., Veltman, J. A., Morava, E. & Lefeber, D. J., Apr 2014, In : Brain : a journal of neurology. 137, Pt 4, p. 1030-8 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 45087247