A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy

por Mandigers, P. J. J., Van Steenbeek, F. G., Bergmann, W., Vos-Loohuis, M., Leegwater, P. A.
Publicado 2021

Heterozygosity testing and multiplex DNA panel screening as a potential tool to monitor health and inbreeding in a small, closed dog population

por Keijser, S. F. A., Fieten, H., Vos-Loohuis, M., Piek, C. J., Anderson, H., Donner, J., Scholten, I., Nielen, M., Hesselink, J. W., van Steenbeek, F. G.
Publicado 2018

Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations

por Stassen, Q.E.M., Koskinen, L.L.E., van Steenbeek, F.G., Seppälä, E.H., Jokinen, T.S., Prins, P.G.M., Bok, H.G.J., Zandvliet, M.M.J.M., Vos‐Loohuis, M., Leegwater, P.A.J., Lohi, H.
Publicado 2017

Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations

por Pei, J., Schuldt, M., Nagyova, E., Gu, Z., el Bouhaddani, S., Yiangou, L., Jansen, M., Calis, J. J. A., Dorsch, L. M., Blok, C. Snijders, van den Dungen, N. A. M., Lansu, N., Boukens, B. J., Efimov, I. R., Michels, M., Verhaar, M. C., de Weger, R., Vink, A., van Steenbeek, F. G., Baas, A. F., Davis, R. P., Uh, H. W., Kuster, D. W. D., Cheng, C., Mokry, M., van der Velden, J., Asselbergs, F. W., Harakalova, M.
Publicado 2021