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Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families
Schreurs, M. A. C., Hollestelle, A., Schaapveld, M., van de Beek, I., Broekema, M. F., van Kaam, K. J. A. F., Komdeur, F. L. & The Hereditary Breast and Ovarian Cancer Research Group Netherlands, 1 Sept 2024, In: Genetics in medicine. 26, 9, 101171.Research output: Contribution to journal › Article › Academic › peer-review
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Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
Demirdas, S., van den Bersselaar, L. M., Lechner, R., Bos, J., Alsters, S. I. M., Baars, M. J. H., Baas, A. F., Baysal, Ö., van der Crabben, S. N., Dulfer, E., Giesbertz, N. A. A., Helderman-van den Enden, A. T. J. M., Hilhorst-Hofstee, Y., Kempers, M. J. E., Komdeur, F. L., Loeys, B., Majoor-Krakauer, D., Ockeloen, C. W., Overwater, E., van Tintelen, P. J., & 6 others, 1 Jun 2024, In: Circulation. Genomic and precision medicine. 17, 3, p. e003978Research output: Contribution to journal › Article › Academic › peer-review
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Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Efthymiou, S., Scala, M., Nagaraj, V., Ochenkowska, K., Komdeur, F. L., Liang, R. A., Abdel-Hamid, M. S., Sultan, T., Barøy, T., Van Ghelue, M., Vona, B., Maroofian, R., Zafar, F., Alkuraya, F. S., Zaki, M. S., Severino, M., Duru, K. C., Tryon, R. C., Brauteset, L. V., Ansari, M., & 9 others, 1 May 2024, In: Brain. 147, 5, p. 1822-1836 15 p.Research output: Contribution to journal › Article › Academic › peer-review
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