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Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G. & Huber, I. & 38 others, , 1 Dec 2020, In: Journal of intellectual disability research. 64, 12, p. 956-969 14 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study: A Dutch multicenter retrospective cohort study
Cosgun, B., Reinders, M. G. H. C., van Geel, M., Steijlen, P. M., van Hout, A. F. W., Leter, E. M., van der Smagt, J. J., van Hagen, J. M., Berger, L. P. V., Kets, C. M., Wagner, A., Aalfs, C. M., Hes, F. J., van der Kolk, L. E., Gille, J. J. P. & Mosterd, K., Aug 2020, In: Journal of the American Academy of Dermatology. 83, 2, p. 604-607 4 p.Research output: Contribution to journal › Article* › Academic › peer-review
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upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts: Two unrelated cases and screening of large cohorts
Hjortshøj, T. D., Sørensen, A. R., Yusibova, M., Hansen, B. M., Dunø, M., Balslev-Harder, M., Grønskov, K., van Hagen, J. M., Polstra, A. M., Eggermann, T., Finken, M. J. J. & Tümer, Z., 1 Jun 2020, In: Clinical genetics. 97, 6, p. 902-907 6 p.Research output: Contribution to journal › Article* › Academic › peer-review
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