Research areas

  1. Published

    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Pourova, R. K., Sedlacek, Z., Keena, B. A., March, M. E., Hou, C. & 133 others, O’Connor, N., Bhoj, E. J., Harr, M. H., Lemire, G., Boycott, K. M., Towne, M., Li, M., Tarnopolsky, M., Brady, L., Parker, M. J., Faghfoury, H., Parsley, L. K., Agolini, E., Dentici, M. L., Novelli, A., Wright, M., Palmquist, R., Lai, K., Scala, M., Striano, P., Iacomino, M., Zara, F., Cooper, A., Maarup, T. J., Byler, M., Lebel, R. R., Balci, T. B., Louie, R., Lyons, M., Douglas, J., Nowak, C., Afenjar, A., Hoyer, J., Keren, B., Maas, S. M., Motazacker, M. M., Martinez-Agosto, J. A., Rabani, A. M., McCormick, E. M., Falk, M. J., Ruggiero, S. M., Helbig, I., Møller, R. S., Tessarollo, L., Ardori, F. T., Palko, M. E., Hsieh, T. C., Krawitz, P. M., Ganapathi, M., Gelb, B. D., Jobanputra, V., Wilson, A., Greally, J., Jacquemont, S., Jizi, K., Bruel, A. L., Quelin, C., Misra, V. K., Chick, E., Romano, C., Greco, D., Arena, A., Morleo, M., Nigro, V., Seyama, R., Uchiyama, Y., Matsumoto, N., Taira, R., Tashiro, K., Sakai, Y., Yigit, G., Wollnik, B., Wagner, M., Kutsche, B., Hurst, A. C. E., Thompson, M. L., Schmidt, R., Randolph, L., Spillmann, R. C., Shashi, V., Higginbotham, E. J., Cordeiro, D., Carnevale, A., Costain, G., Khan, T., Funalot, B., Mau-Them, F. T., Garcia Moya, L. F., García-Miñaúr, S., Osmond, M., Chad, L., Quercia, N., Carrasco, D., Li, C., Sanchez-Valle, A., Kelley, M., Nizon, M., Jensson, B. O., Sulem, P., Stefansson, K., Gorokhova, S., Busa, T., Rio, M., Habdallah, H. H., Lesieur-Sebellin, M., Amiel, J., Pingault, V., Mercier, S., Vincent, M., Philippe, C., Fatus-Fauconnier, C., Friend, K., Halligan, R. K., Biswas, S., Rosser, J., Shoubridge, C., Corbett, M., Barnett, C., Gecz, J., Leppig, K., Slavotinek, A., Marcelis, C., Pfundt, R., de Vries, B. B. A., van Slegtenhorst, M. A., Brooks, A. S., Cogne, B., Rambaud, T., Tümer, Asuman Zeynep, Zackai, E. H., Akizu, N., Song, Y. & Hakonarson, H., 2024, In: Journal of Clinical Investigation. 134, 1, 17 p., e171235.

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Published

    Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

    Ahlborn, L. B., Dandanell, M., Steffensen, A. Y., Jønson, L., Nielsen, Finn Cilius & Hansen, T. V. O., Apr 2015, In: Breast Cancer Research and Treatment. 150, 2, p. 289-98 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Splicing inhibition of MDM2 pre-mRNA by Peptide Nucleic Acids

    Eustyrskard, J., 2004, BioCentrum, DTU. Danmark.

    Research output: Book/ReportReportCommunication

  4. Published

    Splid, nedgang og nye impulser: Historisk Tidsskrift 1917-1942

    Larsen, H. K., 2014, In: Historisk Tidsskrift. 1, p. 94-149 55 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Splinten i øjet

    Petersen, T. W., 1999, In: Nationaløkonomisk tidsskrift. 137, 2, p. 222-223

    Research output: Contribution to journalLetterResearch

  6. Published

    Splints, with or without wrist immobilization, following surgical repair of flexor tendon lesions of the hand: A systematic review

    Woythal, L., Hølmer, P. & Brorson, Stig, 2019, In: Hand Surgery and Rehabilitation. 38, 4, p. 217-222

    Research output: Contribution to journalReviewResearchpeer-review

  7. Split + Splice: an experiment in scholarly methodology and exhibition making

    Fleming, Martha Ann, 1 May 2013, Analyzing Art and Aesthetics ,Volume 9 of Artefacts: Studies in the History of Science and Technology.

    Research output: Chapter in Book/Report/Conference proceedingBook chapterResearch

  8. Published

    Split neutrinos, two Majorana and one Dirac, and implications for leptogenesis, dark matter, and inflation

    Mazumdar, A. & Morisi, S., 24 Aug 2012, In: Physical Review D (Particles, Fields, Gravitation and Cosmology). 86, 4, p. 045031 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Split-Channel Ballistic Transport in an InSb Nanowire

    Estrada Saldana, J. C., Niquet, Y., Cleuziou, J., Lee, E. J. H., Car, D., Plissard, S. R., Bakkers, E. P. A. M. & De Franceschi, S., 7 Mar 2018, In: Nano Letters. 18, 4, p. 2282-2287

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Split-click protein chemistry

    Kofoed, Christian, 2018, Department of Chemistry, Faculty of Science, University of Copenhagen.

    Research output: Book/ReportPh.D. thesisResearch