Amsterdam Reproduction & Development
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ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders
Brioude, F., Haagmans, M. A., Mannens, M., Netchine, I., Alders, M., Henneman, P. & Bliek, J., 1 Dec 2025, In: Clinical epigenetics. 17, 1, 119.Research output: Contribution to journal › Article* › Academic › peer-review
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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature
Fischer, J., Alders, M., Mannens, M. M. A. M., Genevieve, D., Hackmann, K., Schröck, E., Sadikovic, B. & Porrmann, J., Dec 2025, In: Clinical epigenetics. 17, 1, p. 5 1 p., 5.Research output: Contribution to journal › Article* › Academic › peer-review
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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy
Nicastro, M., Vermeer, A. M. C., Postema, P. G., Tadros, R., Bowling, F. Z., Aegisdottir, H. M., Tragante, V., Mach, L., Postma, A. V., Lodder, E. M., van Duijvenboden, K., Zwart, R., Beekman, L., Wu, L., Jurgens, S. J., van der Zwaag, P. A., Alders, M., Allouba, M., Aguib, Y. & Santome, J. L. & 51 others, , 3 Jul 2025, In: American journal of human genetics. 112, 7, p. 1681-1698 18 p.Research output: Contribution to journal › Article* › Academic › peer-review
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