Els Voorhoeve



Research output per year

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Research Output

  • 5 Article
  • 1 Meeting Abstract

Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders

Maugeri, A., Voorhoeve, E., Appelman-Dijkstra, N. M., van Dijk, A. T. H., van Dijk, F. S., Eekhoff, E. M. W., Elting, M. W., van Haeringen, A., Harsevoort, A., Isrie, M., Janus, G. J. M., de Jongh, R. T., van de Kamp, J. M., van Maarle, M. C., Marcelis, C. L. M., Simon, M. E. H., Simsek, S., Stumpel, C. T. R. M., Terhal, P. A., Veenstra-Knol, H. E. & 6 others, Zillikens, M. C., Meijers-Heijboer, E. J., Sistermans, E. A., Weiss, M. M., Pals, G. & Micha, D., Oct 2019, In : European Journal of Human Genetics. 27, p. 1293-1293

Research output: Contribution to journalMeeting AbstractAcademic

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Overwater, E., Marsili, L., Baars, M. J. H., Baas, A. F., van de Beek, I., Dulfer, E., van Hagen, J. M., Hilhorst-Hofstee, Y., Kempers, M., Krapels, I. P., Menke, L. A., Verhagen, J. M. A., Yeung, K. K., Zwijnenburg, P. J. G., Groenink, M., van Rijn, P., Weiss, M. M., Voorhoeve, E., van Tintelen, J. P., Houweling, A. C. & 1 others, Maugeri, A., 1 Sep 2018, In : Human Mutation. 39, 9, p. 1173-1192 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Estimates of live birth prevalence of children with Down syndrome in the period 1991–2015 in the Netherlands

de Graaf, G., Engelen, J. J. M., Gijsbers, A. C. J., Hochstenbach, R., Hoffer, M. J. V., Kooper, A. J. A., Sikkema-Raddatz, B., Srebniak, M. I., van der Kevie-Kersemaekers, A. M. F., van Zutven, L. J. C. M. & Voorhoeve, E., 1 May 2017, In : Journal of Intellectual Disability Research. 61, 5, p. 461-470 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene

Stokman, L., Nossent, E. J., Grunberg, K., Meijboom, L., Yakicier, M. C., Voorhoeve, E. & Houweling, A. C., Apr 2016, In : Clinical case reports. 4, 4, p. 412-415

Research output: Contribution to journalArticleAcademicpeer-review

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

Beunders, G., de Munnik, S. A., van der Aa, N. E., Ceulemans, B., Voorhoeve, E., Groffen, A. J. A., Nillesen, W. M., Meijers-Heijboer, E. J., Kooy, F. R., Yntema, H. G. & Sistermans, E. A., 2015, In : European Journal of Human Genetics. 23, 6, p. 803-807

Research output: Contribution to journalArticleAcademicpeer-review