Research Output per year
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Research Output 1990 2017
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
van der Tuin, K., Tops, C. M. J., Adank, M. A., Cobben, J. M., Hamdy, N. A. T., Jongmans, M. C., Menko, F. H., van Nesselrooij, B. P. M., Netea-Maier, R. T., Oosterwijk, J. C., Valk, G. D., Wolffenbuttel, B. H. R., Hes, F. J. & Morreau, H., 1 Dec 2017, In : The Journal of clinical endocrinology and metabolism. 102, 12, p. 4534-4540 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis
van Dijk, F. S., Mancini, G. M. S., Maugeri, A. & Cobben, J. M., 1 Oct 2017, In : European Journal of Medical Genetics. 60, 10, p. 536-540 5 p.Research output: Contribution to journal › Article › Academic › peer-review
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield
Overwater, E., Floor, K., van Beek, D., de Boer, K., van Dijk, T., Hilhorst-Hofstee, Y., Hoogeboom, A. J. M., van Kaam, K. J., van de Kamp, J. M., Kempers, M., Krapels, I. P. C., Kroes, H. Y., Loeys, B., Salemink, S., Stumpel, C. T. R. M., Verhoeven, V. J. M., Wijnands-van den Berg, E., Cobben, J. M., van Tintelen, J. P., Weiss, M. M. & 2 others, 1 Sep 2017, In : European Journal of Medical Genetics. 60, 9, p. 465-473 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia
van Koningsbruggen, S., Knoester, H., Bakx, R., Mook, O., Knegt, L. & Cobben, J. M., 1 Feb 2016, In : American Journal of Medical Genetics, Part A. 170, 2, p. 510-514 5 p.Research output: Contribution to journal › Article › Academic › peer-review
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study
Verhagen, M. M. M., Last, J. I., Hogervorst, F. B. L., Smeets, D. F. C. M., Roeleveld, N., Verheijen, F., Catsman-Berrevoets, C. E., Wulffraat, NM., Cobben, J. M., Hiel, J., Brunt, E. R., Peeters, E. A. J., Garcia, E. B. G., van der Knaap, M. S., Lincke, C. R., Laan, L. A. E. M., Tijssen, M. A. J., van Rijn, M. A., Majoor-Krakauer, D., Visser, M. & 13 others, 2012, In : Human Mutation. 33, 3, p. 561-571Research output: Contribution to journal › Article › Academic › peer-review