Research output per year
Research output per year
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
Profiles
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Dennis Dooijes
- Division Laboratories and Pharmacy, Section genome diagnostics - Laboratory specialist clinical genetics, education coordinator genetics
- Circulatory Health
Person: Research Analyst
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Lars van der Veken
- Division Laboratories and Pharmacy, Section genome diagnostics - Clinical Laboratory Geneticist
- Cancer - Clinical Laboratory Geneticist
Person: Researcher/Postdoc
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Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant
van Drie, E., Jongbloed, J. D. H., Hoorntje, E., van der Zwaag, P. A., Cox, M. G. P. J., Deprez, R. H. L., Houweling, A. C., Proost, V. P., Wilde, A. A. M., Dooijes, D., Baas, A. F., Te Riele, A. S. J. M., van Spaendonck-Zwarts, K. Y., Lodder, E. M. & van Tintelen, J. P., 1 Aug 2025, In: International Journal of Cardiology. 432, 8 p., 133264.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling
Zwartkruis, M. M., de Pagter, M. S., Gommers, D., Koopmans, M., Ottenheim, C. P. E., Kortooms, J. V., Albring, M., Elferink, M. G., Wadman, R. I., Asselman, F.-L., Cuppen, I., van der Pol, W. L., Nelen, M. R., van Haaften, G. W. & Groen, E. J. N., 15 May 2025, In: Human molecular genetics. 34, 10, p. 894–904 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile11 Downloads (Pure) -
Challenging Conventional Diagnostic Methods by Comprehensive Molecular Diagnostics: A Nationwide Prospective Comparison in Children With ALL
Boer, J. M., Koudijs, M. J., Kester, L. A., Sonneveld, E., Hehir-Kwa, J. Y., Snijder, S., Waanders, E., Buijs, A., De Haas, V., Van Der Sluis, I. M., Pieters, R., Den Boer, M. L. & Tops, B. B. J., 1 Feb 2025, In: JCO Precision Oncology. 9, e2400788.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile
Activities
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UMC Utrecht: Nieuwe aangeboren metabole ziekte ontdekt
Muffels, I. (Interviewee), van Hasselt, P. (Contributor), Fuchs, S. A. (Contributor), van Wijk, F. (Contributor), Massink, M. (Contributor), Houben, M. (Contributor) & Lequin, M. (Contributor)
28 Feb 2023Activity: Other › Types of Public engagement and outreach - Media article or participation
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Working group on reporting practices from next generation sequencing (Event)
Koen van Gassen (Member)
6 Dec 2016Activity: Membership › Membership of working group › Academic
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Het zit vast in de genen
Ploos van Amstel, H. K. (Speaker)
14 Apr 2016Activity: Talk or presentation › Oral presentation › Academic
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