Jan Cobben

DR.

1990 …2017
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Research Output 1990 2017

  • 9 Article
  • 1 Comment/Letter to the editor
  • 1 Letter

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 journalArticleAcademicpeer-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 journalArticleAcademicpeer-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 othersHouweling, A. C. & Maugeri, A., 1 Sep 2017, In : European Journal of Medical Genetics. 60, 9, p. 465-473 9 p.

Research output: Contribution to journalArticleAcademicpeer-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 journalArticleAcademicpeer-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 othersvan 't Veer, L. J., Kleijer, W. J., van de Warrenburg, B. P. C., Warris, A., de Groot, I. J. M., de Groot, R., Broeks, A., Preijers, F., Kremer, B. H. P. H., Weemaes, C. M. R., Taylor, M. A. M. R., van Deuren, M. & Willemsen, M. A. A. P., 2012, In : Human Mutation. 33, 3, p. 561-571

Research output: Contribution to journalArticleAcademicpeer-review