Research output per year
Research output per year
Research output
- 4 Article
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Performance of BRCA1/2 mutation prediction models in male breast cancer patients
Moghadasi, S., Grundeken, V., Janssen, L. A. M., Dijkstra, N. H., Rodriguez-Girondo, M., van Zelst-Stams, W. A. G., Oosterwijk, J. C., Ausems, M. G. E. M., Oldenburg, R. A., Adank, M. A., Blom, E. W., Ruijs, M. W. G., van Os, T. A. M., van Deurzen, C. H. M., Martens, J. W. M., Schroder, C. P., Wijnen, J. T., Vreeswijk, M. P. G. & van Asperen, C. J., 1 Jan 2018, In: Clinical Genetics. 93, 1, p. 52-59 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1
Stevens, S. J. C., Blom, E. W., Siegelaer, I. T. J. & Smeets, E. E. J. G. L., Apr 2015, In: European Journal of Human Genetics. 23, 4, p. 543-546Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Fatigue and daytime sleepiness scale in myotonic dystrophy type 1
Hermans, M. C. E., Merkies, I. S. J., Laberge, L., Blom, E. W., Tennant, A. & Faber, C. G., Jan 2013, In: Muscle & Nerve. 47, 1, p. 89-95Research output: Contribution to journal › Article › Academic › peer-review
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Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation
Klaassens, M., Blom, E. W., Schrander, J. J. P., Ris-Stalpers, C., Kruseman, A. C. N., van Steensel, M. A. M. & Schrander-Stumpel, C. T. R. M., Mar 2010, In: British Journal of Dermatology. 162, 3, p. 690-694Research output: Contribution to journal › Article › Academic › peer-review