Research output per year
Research output per year
Research output
- 10 Article
-
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism
Steinbusch, L. K. M., Wang, P., Waterval, H. W. A. H., Stassen, F. A. P. M., Coene, K. L. M., Engelke, U. F. H., Habets, D. D. J., Bierau, J. & Korver-Keularts, I. M. L. W., 1 Sept 2021, In: Journal of Inherited Metabolic Disease. 44, 5, p. 1113-1123 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access5 Citations (Web of Science) -
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions
Guo, L., Govindaraj, P., Kievit, M., de Coo, I. F. M., Gerards, M., Hellebrekers, D. M. E. I., Stassen, A. P. M., Gayathri, N., Taly, A. B., Sankaran, B. P. & Smeets, H. J. M., 1 Sept 2021, In: Neuromuscular Disorders. 31, 9, p. 859-864 6 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access1 Citation (Web of Science) -
Fitter Mitochondria Are Associated With Radioresistance in Human Head and Neck SQD9 Cancer Cells
Grasso, D., Medeiros, H. C. D., Zampieri, L. X., Bol, V., Danhier, P., van Gisbergen, M. W., Bouzin, C., Brusa, D., Gregoire, V., Smeets, H., Stassen, A. P. M., Dubois, L. J., Lambin, P., Dutreix, M. & Sonveaux, P., 13 Mar 2020, In: Frontiers in Pharmacology. 11, 16 p., 263.Research output: Contribution to journal › Article › Academic › peer-review
Open Access15 Citations (Web of Science) -
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
Theunissen, T. E. J., Nguyen, M., Kamps, R., Hendrickx, A. T., Sallevelt, S. C. E. H., Gottschalk, R. W. H., Calis, C. M., Stassen, A. P. M., de Koning, B., Mulder-Den Hartog, E. N. M., Schoonderwoerd, K., Fuchs, S. A., Hilhorst-Hofstee, Y., de Visser, M., Vanoevelen, J., Szklarczyk, R., Gerards, M., de Coo, I. F. M., Hellebrekers, D. M. E. & Smeets, H. J. M., 12 Oct 2018, In: Frontiers in Genetics. 9, 17 p., 400.Research output: Contribution to journal › Article › Academic › peer-review
Open Access47 Citations (Web of Science) -
Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population
Bonneux, S., Fransen, E., Van Eyken, E., Van Laer, L., Huyghe, J., Van de Heyning, P., Voets, A., Gerards, M., Stassen, A. P. M., Hendrickx, A. T. M., Smeets, H. J. M. & Van Camp, G., Sept 2011, In: Mitochondrion. 11, 5, p. 729-734 6 p.Research output: Contribution to journal › Article › Academic › peer-review
7 Citations (Web of Science)