Research output per year
Research output per year
Personal profile
Research interests
Currently, my aim is to molecular diagnose patients with hereditary disorders. As a cell biologist with my attained knowledge and broad experience in the field of molecular biology, I hope to molecular diagnose patients with genetic disorder and accelerate the innovation of genetic testing.
Education/Academic qualification
PhD, Molecular Physiology, Radboud University, Nijmegen, Netherlands
1 Sept 2013 → 31 Aug 2017
Award Date: 15 Feb 2018
Master, Two Master’s degree in Biomedical Sciences in the fields: Human Pathobiology & Toxicology, Radboud University, Nijmegen, Netherlands
1 Sept 2010 → 31 Aug 2013
Award Date: 1 Aug 2013
Bachelor, Applied Life Sciences in the fields: Medical Microbiology & Biochemistry, HAN University of Applied Sciences
1 Sept 2006 → 2 Aug 2010
Award Date: 2 Aug 2010
Keywords
- Q Science (General)
- Genetics
- Functional Genomics
- Moleculair Biology
- Whole Exome Sequencing (WES)
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research output
- 2 Article
-
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
Wintjes, L. T. M., Kava, M., van den Brandt, F. A., van den Brand, M. A. M., Lapina, O., Bliksrud, Y. T., Kulseth, M. A., Amundsen, S. S., Selberg, T. R., Ybema-Antoine, M., Tutakhel, O. A. Z., Greed, L., Thorburn, D. R., Tangeraas, T., Balasubramaniam, S. & Rodenburg, R. J. T., Feb 2021, In: Human mutation. 42, 2, p. 135-141 7 p.Research output: Contribution to journal › Article › Academic › peer-review
-
Comparing Approaches to Normalize, Quantify, and Characterize Urinary Extracellular Vesicles
Blijdorp, C. J., Tutakhel, O. A. Z., Hartjes, T. A., van den Bosch, T. P. P., van Heugten, M. H., Rigalli, J. P., Willemsen, R., Musterd-Bhaggoe, U. M., Barros, E. R., Carles-Fontana, R., Carvajal, C. A., Arntz, O. J., van de Loo, F. A. J., Jenster, G., Clahsen-van Groningen, M. C., Cuevas, C. A., Severs, D., Fenton, R. A., van Royen, M. E., Hoenderop, J. G. J., & 2 others, 3 May 2021, In: Journal of the American Society of Nephrology. 32, 5, p. 1210-1226 17 p.Research output: Contribution to journal › Article › Academic › peer-review
52 Citations (Scopus)