Human Genetics (AMC)

Bergen A.A.B.: Molecular etiology of complex genetic eye disorders
Bergen, A. A., Florijn, R., ten Brink, J., Bagchi, U., Bennis, A., Koster, C., Milicevic, N. & Zekveld-Vroon, R.
1/01/2012 → …
Project: Research
Hennekam R.C.M.: Diagnostics and care for rare disorders
Hennekam, R., Heinen, C., Zwaveling-Soonawala, N., Huisman, S., van de Kar, A., Mitchell, C., Mulder, P. & Postema, F.
1/01/2011 → …
Project: Research
Pinto Y.M.: Molecular genetics of heart failure
Aufiero, S., Damanafshan, A., de Groot, N., van den Hoogenhof, M., Jansweijer, J., Reckman, Y., Russo, F., Salah, K., Stienen, S., Pinto, Y., Creemers, E., van Deutekom, H. & van der Made, I.
1/02/2008 → …
Project: Research

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Ben-Mahmoud, A., Kishikawa, S., Gupta, V., Leach, N. T., Shen, Y., Moldovan, O., Goel, H., Hopper, B., Ranguin, K., Gruchy, N., Maas, S. M., Lacassie, Y., Kim, S-H., Kim, W-Y., Quade, B. J., Morton, C. C., Kim, C-H., Layman, L. C. & Kim, H-G., Dec 2023, In: Scientific reports. 13, 1, p. 12984 12984.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
A large family with MSH3-related polyposis
Aelvoet, A. S., Hoekman, D. R., Redeker, B. J. W., Weegenaar, J., Dekker, E., van Noesel, C. J. M. & Duijkers, F. A. M., Jan 2023, In: Familial Cancer. 22, 1, p. 49-54 6 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

3 Citations (Scopus)
A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia
Broekema, M. F., Redeker, E. J. W., Uiterwaal, M. T. & van Hest, L. P., 1 Dec 2023, In: Hereditary Cancer in Clinical Practice. 21, 1, 16.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

Trends in Cardiovascular Medicine (External organisation)
Alex V. Postma (Chair)
4 Dec 2014
Activity: Membership › Membership of board › Academic

Collaborations and top research areas from the last five years