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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
The Dutch NIPT Consortium & 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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Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy
Al-Saady, M. L., Kaiser, C. S., Wakasuqui, F., Korenke, G. C., Waisfisz, Q., Polstra, A., Pouwels, P. J. W., Bugiani, M., Van Der Knaap, M. S., Lunsing, R. J., Liebau, E. & Wolf, N. I., 1 Dec 2021, In: Neuropediatrics. 52, 6, p. 489-494 6 p.Research output: Contribution to journal › Article › Academic › peer-review
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