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Jens Erik Klint Nielsen

  • Blegdamsvej 3

    2200 København N.

  • Køgevej 7 - 13, 4000 Roskilde

20122018

Research activity per year

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  • 5 Journal article
  • 1 Conference abstract in journal

  • 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., & 60 othersCuturilo, 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., 1 Sept 2018, In: Genetics In Medicine. 20, 9, p. 965-975

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

    30 Citations (Scopus)
    24 Downloads (Pure)

  • Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

    Møller, R. S., Larsen, L. H. G., Johannesen, K. M., Talvik, I., Talvik, T., Vaher, U., Miranda, M. J., Farooq, M., Nielsen, J. E. K., Svendsen, L. L., Kjelgaard, D. B., Linnet, K. M., Hao, Q., Uldall, P., Frangu, M., Tommerup, N., Baig, S. M., Abdullah, U., Born, A. P., Gellert, P., & 12 othersNikanorova, M., Olofsson, K., Jepsen, B., Marjanovic, D., Al-Zehhawi, L. I. K., Peñalva, S. J., Krag-Olsen, B., Brusgaard, K., Hjalgrim, H., Rubboli, G., Pal, D. K. & Dahl, H. A., 1 Sept 2016, In: Molecular Syndromology. 7, 4, p. 210-219 10 p.

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

    55 Citations (Scopus)

  • TARGETED NEXT GENERATION SEQUENCING AS A DIAGNOSTIC TOOL IN 163 PATIENTS WITH EPILEPTIC ENCEPHALOPATHIES

    Dahl, H. A., Larsen, L. H. G., Olofsson, K., Miranda, M., Nielsen, J. E. K., Lavard, L., Linnet, K., Uldall, P., Talvik, T., Talvik, I., Frangu, M., Born, P., Gellert, P., Nikanorova, M., Jepsen, B., Marjanovic, D., Kragh-Olsen, B., Mosbech, M. -B., Hao, Q., Brusgaard, K., & 2 othersHjalgrim, H. & Moller, R. S., Dec 2015, In: Epilepsia. 56, Supplement S1, p. 72-73

    Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

  • The phenotypic spectrum of SCN8A encephalopathy

    Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Y., Nielsen, J. E. K., Kirkpatrick, M., Goudie, D., Goldman, R., Jähn, J. A., Jepsen, B., Gill, D., Döcker, M., Biskup, S., McMahon, J. M., Koeleman, B., & 18 othersHarris, M., Braun, K., de Kovel, C. G. F., Marini, C., Specchio, N., Djémié, T., Weckhuysen, S., Tommerup, N., Troncoso, M., Troncoso, L., Bevot, A., Wolff, M., Hjalgrim, H., Guerrini, R., Scheffer, I. E., Mefford, H. C., Møller, R. S. & EuroEPINOMICS RES Consortium CRP, 3 Feb 2015, In: Neurology. 84, 5, p. 480-9 10 p.

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

    168 Citations (Scopus)

  • Cerebral infarct eight months after primary Varicella-zoster virus infection.

    Bjerrum, M. C., Nielsen, J. E. K. & Nordling, M. M., 25 Nov 2013, In: Ugeskrift for Laeger. 175, 48A

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

  • Expression of the vitamin D metabolizing enzyme CYP24A1 at the annulus of human spermatozoa may serve as a novel marker of semen quality

    Jensen, M. B., Jørgensen, A., Nielsen, J. E., Bjerrum, P. J., Skalkam, M., Petersen, J. H., Egeberg, D. L., Bangsbøll, S., Andersen, A. N., Skakkebaek, N. E., Juul, A., Rajpert-De Meyts, E., Dissing, S., Leffers, H. & Jørgensen, N., Aug 2012, In: International Journal of Andrology. 35, 4, p. 499-510 12 p.

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

    54 Citations (Scopus)