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Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
van Walree, E. S., Dombrowsky, G., Jansen, I. E., Mirkov, M. U., Zwart, R., Ilgun, A., Guo, D., Clur, S.-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu’Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E. & Christoffels, V. M. & 6 others, , Jan 2021, In: Genetics in medicine. 23, 1, p. 103-110 8 p.Research output: Contribution to journal › Article* › Academic › peer-review
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How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples: Views of high-risk couples
van Dijke, I., Lakeman, P., Mathijssen, I. B., Goddijn, M., Cornel, M. C. & Henneman, L., Jan 2021, In: European journal of human genetics. 29, 1, p. 39-50 12 p.Research output: Contribution to journal › Article* › Academic › peer-review
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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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