dr. K.E. (Klary E) Niezen-Koning

European Clinical Laboratory Geneticist (Biochemist, PhD, ErCLG) Metabolic Diseases

Research

Publications
  1. The past and presence of gene targeting: from chemicals and DNA via proteins to RNA

    Geel, T. M., Ruiters, M. H. J., Cool, R. H., Halby, L., Voshart, D. C., Andrade Ruiz, L., Niezen-Koning, K. E., Arimondo, P. B. & Rots, M. G., 5-Jun-2018, In : Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences. 373, 1748, 20170077.

    Research output: Contribution to journalReview articleAcademicpeer-review

  2. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

    Berkovic, S. F., Staropoli, J. F., Carpenter, S., Oliver, K. L., Kmoch, S., Anderson, G. W., Damiano, J. A., Hildebrand, M. S., Sims, K. B., Cotman, S. L., Bahlo, M., Smith, K. R., Cadieux-Dion, M., Cossette, P., Jedlickova, I., Pristoupilova, A., Mole, S. E. & ANCL Gene Discovery Consortium, 9-Aug-2016, In : Neurology. 87, 6, p. 579-584 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders

    van Eunen, K., Volker-Touw, C. M. L., Gerding, A., Bleeker, A., Wolters, J. C., Rijt, van, W., Martines, A-C. M. F., Niezen-Koning, K. E., Heiner, R. M., Permentier, H., Groen, A. K., Reijngoud, D-J., Derks, T. G. J. & Bakker, B. M., 7-Dec-2016, In : BMC Biology. 14, 1, 15 p., 107.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

    Huemer, M., Mulder-Bleile, R., Burda, P., Froese, D. S., Suormala, T., Ben Zeev, B., Chinnery, P. F., Dionisi-Vici, C., Dobbelaere, D., Gokcay, G., Demirkol, M., Haeberle, J., Lossos, A., Mengel, E., Morris, A. A., Niezen-Koning, K. E., Plecko, B., Parini, R., Rokicki, D., Schiff, M., Schimmel, M., Sewell, A. C., Sperl, W., Spiekerkoetter, U., Steinmann, B., Taddeucci, G., Trejo-Gabriel-Galan, J. M., Trefz, F., Tsuji, M., Antonia Vilaseca, M., von Kleist-Retzow, J-C., Walker, V., Zeman, J., Baumgartner, M. R. & Fowler, B., Jan-2016, In : Journal of Inherited Metabolic Disease. 39, 1, p. 115-124 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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