Amsterdam Reproduction & Development
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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
van der Laan, L., Silva, A., Kleinendorst, L., Rooney, K., Haghshenas, S., Lauffer, P., Alanay, Y., Bhai, P., Brusco, A., de Munnik, S., de Vries, B. B. A., Vega, A. D., Engelen, M., Herkert, J. C., Hochstenbach, R., Hopman, S., Kant, S. G., Kira, R., Kato, M. & Keren, B. & 24 others, , 9 Jan 2025, In: Human Genetics and Genomics Advances. 6, 1, 100380.Research output: Contribution to journal › Article* › Academic › peer-review
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Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
van de Beek, I., Glykofridis, I. E., Tanck, M. W. T., Luijten, M. N. H., Starink, T. M., Balk, J. A., Johannesma, P. C., Hennekam, E., van den Hoff, M. J. B., Gunst, Q. D., Gille, J. J. P., Polstra, A. M., Postmus, P. E., van Steensel, M. A. M., Postma, A. V., Wolthuis, R. M. F., Menko, F. H., Houweling, A. C. & Waisfisz, Q., Apr 2023, In: Journal of human genetics. 68, 4, p. 273-279 7 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study
Dutch NIPT Consortium & The Dutch NIPT Consortium, 1 Aug 2022, In: Journal of clinical oncology. 40, 22, p. 2426-2435 10 p., JCO.21.02260.Research output: Contribution to journal › Article* › Academic › peer-review
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