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A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?
Medendorp, N. M., Hillen, M. A., Visser, L. N. C., Aalfs, C. M., Duijkers, F. A. M., van Engelen, K., Ausems, M. G. E. M., Verhoef, S., Stiggelbout, A. M. & Smets, E. M. A., May 2021, In: European journal of human genetics. 29, 5, p. 789-799 11 p.Research output: Contribution to journal › Article* › Academic › peer-review
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De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Lehalle, D., Vabres, P., Sorlin, A., Bierhals, T., Avila, M., Carmignac, V., Chevarin, M., Torti, E., Abe, Y., Bartolomaeus, T., Clayton-Smith, J., Cogné, B., Cusco, I., Duplomb, L., de Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal, A. & Geneviève, D. & 31 others, , 1 Dec 2020, In: Journal of medical genetics. 57, 12, p. 808-819 12 p., 106508.Research output: Contribution to journal › Article* › Academic › peer-review
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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Pennings, M., Schouten, M. I., van Gaalen, J., Meijer, R. P. P., de Bot, S. T., Kriek, M., Saris, C. G. J., van den Berg, L. H., van Es, M. A., Zuidgeest, D. M. H., Elting, M. W., van de Kamp, J. M., van Spaendonck-Zwarts, K. Y., Die-Smulders, C. D., Brilstra, E. H., Verschuuren, C. C., de Vries, B. B. A., Bruijn, J., Sofou, K. & Duijkers, F. A. & 4 others, , 1 Jan 2020, In: European journal of human genetics. 28, 1, p. 40-49 10 p., 31488895.Research output: Contribution to journal › Article* › Academic › peer-review
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