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 journal › Review article › Academic › peer-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 journal › Article › Academic › peer-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 journal › Article › Academic › peer-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 journal › Article › Academic › peer-review

5. Translational Targeted Proteomics Profiling of Mitochondrial Energy Metabolic Pathways in Mouse and Human Samples

   Wolters, J. C., Ciapaite, J., van Eunen, K., Niezen-Koning, K. E., Matton, A., Porte, R. J., Horvatovich, P., Bakker, B. M., Bischoff, R. & Permentier, H. P., Sep-2016, In : Journal of Proteome Research. 15, 9, p. 3204-3213 10 p.

   Research output: Contribution to journal › Article › Academic › peer-review

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