Research output per year
Research output per year
Search results
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2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
Janssen, A. E. J., Koeck, R. M., Essers, R., Cao, P., van Dijk, W., Drüsedau, M., Meekels, J., Yaldiz, B., van de Vorst, M., de Koning, B., Hellebrekers, D. M. E. I., Stevens, S. J. C., Sun, S. M., Heijligers, M., de Munnik, S. A., van Uum, C. M. J., Achten, J., Hamers, L., Naghdi, M. & Vissers, L. E. L. M. & 9 others, , 1 Dec 2024, In: Nature Communications. 15, 1, 15 p., 7164.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Genome sequencing as a generic diagnostic strategy for rare disease
Schobers, G., Derks, R., den Ouden, A., Swinkels, H., van Reeuwijk, J., Bosgoed, E., Lugtenberg, D., Sun, S. M., Corominas Galbany, J., Weiss, M., Blok, M. J., Olde Keizer, R. A. C. M., Hofste, T., Hellebrekers, D., de Leeuw, N., Stegmann, A., Kamsteeg, E.-J., Paulussen, A. D. C., Ligtenberg, M. J. L. & Bradley, X. Z. & 10 others, , 14 Feb 2024, In: Genome Medicine. 16, 1, 11 p., 32.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
2023
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
Janssen, A. E. J., Koeck, R. M., Essers, R., van Dijk, W., Drusedau, M., Meekels, J., Yaldiz, B., van de Vorst, M., Cao, P., de Koning, B., Hellebrekers, D. M. E. I., Stevens, S. J. C., Sun, S. M., Heijligers, M., de Munnik, S. A., van Uum, C. M. J., Achten, J., Hamers, L., Naghdi, M. & Vissers, L. E. L. M. & 9 others, , 8 Dec 2023, 32 p.Research output: Working paper / Preprint › Preprint
Open Access