prof. dr. R.J. (Richard) Sinke

Professor

Research

  1. 2019
  2. 2018
  3. 2017
  4. Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., ... Vanderver, A. (2017). X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. Neurogenetics, 18(4), 185-194. https://doi.org/10.1007/s10048-017-0520-x
  5. Nibbeling, E. A. R., Duarri, A., Verschuuren-Bemelmans, C. C., Fokkens, M. R., Karjalainen, J. M., Smeets, C. J. L. M., ... Verbeek, D. S. (2017). Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain, 140(11), 2860-2878. https://doi.org/10.1093/brain/awx251
  6. 2016
  7. Oldoni, F., van Capelleveen, J., Motazacker, M. M., Heeren, J., Sinke, R., Dallinga-Thie, G., ... Kuivenhoven, J. A. (2016). Regulation of HDL-C levels via ABCA1: A role for LRP1. ATHEROSCLEROSIS, 252, E264-E264. https://doi.org/10.1016/j.atherosclerosis.2016.07.101
  8. Almomani, R., Verhagen, J. M. A., Herkert, J. C., Brosens, E., van Spaendonck-Zwarts, K. Y., Asimaki, A., ... van de Laar, I. M. B. H. (2016). Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. Journal of the American College of Cardiology, 67(5), 515-525. https://doi.org/10.1016/j.jacc.2015.10.093
  9. 2015
  10. Vrijenhoek, T., Kraaijeveld, K., Elferink, M., de Ligt, J., Kranendonk, E., Santen, G., ... Cuppen, E. (2015). Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. European Journal of Human Genetics, 23(9), 1142-1150. https://doi.org/10.1038/ejhg.2014.279
  11. Vrijenhoek, T., Kraaijeveld, K., Elferink, M., de Ligt, J., Kranendonk, E., Santen, G., ... Cuppen, E. (2015). Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. European Journal of Human Genetics, 23(9), 1270-1270. https://doi.org/10.1038/ejhg.2015.44
  12. Duarri , A., Nibbeling, E. A. R., Fokkens, M. R., Meijer, M., Boerrigter, M., Verschuuren - Bemelmans, C. C., ... Verbeek, D. S. (2015). Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases. PLoS ONE, 10(3), [e0116599]. https://doi.org/10.1371/journal.pone.0116599
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