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Research Output

  • 20 Article
  • 2 Comment/Letter to the editor
  • 1 Chapter

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Arts, P., Simons, A., AlZahrani, M. S., Yilmaz, E., AlIdrissi, E., van Aerde, K. J., Alenezi, N., AlGhamdi, H. A., AlJubab, H. A., Al-Hussaini, A. A., AlManjomi, F., Alsaad, A. B., Alsaleem, B., Andijani, A. A., Asery, A., Ballourah, W., Bleeker-Rovers, C. P., van Deuren, M., van der Flier, M., Gerkes, E. H. & 32 others, Gilissen, C., Habazi, M. K., Hehir-Kwa, J. Y., Henriet, S. S., Hoppenreijs, E. P., Hortillosa, S., Kerkhofs, C. H., Keski-Filppula, R., Lelieveld, S. H., Lone, K., MacKenzie, M. A., Mensenkamp, A. R., Moilanen, J., Nelen, M., ten Oever, J., Potjewijd, J., van Paassen, P., Schuurs-Hoeijmakers, J. H. M., Simon, A., Stokowy, T., van de Vorst, M., Vreeburg, M., Wagner, A., van Well, G. T. J., Zafeiropoulou, D., Zonneveld-Huijssoon, E., Veltman, J. A., van Zelst-Stams, W. A. G., Faqeih, E. A., van de Veerdonk, F. L., Netea, M. G. & Hoischen, A., 17 Jun 2019, In : Genome Medicine. 11, p. 1-15 15 p., 38.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Phenotypic variability including Behcet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A > G splice site mutation

van Well, G. T. J., Kant, B., van Nistelrooij, A., Ekmekci, S. S., Henriet, S. S. V., Hoppenreijs, E., van Deuren, M., van Montfrans, J., Nierkens, S., Gul, A. & van Gijn, M. E., 2019, In : Clinical and Experimental Rheumatology. 37, 121/6, p. 142-146 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Timeliness of immunisations in preterm infants in the Netherlands

Rouers, E. D. M., Berbers, G. A. M., van Dongen, J. A. P., Sanders, E. A. M., Bruijning-Verhagen, P., van Houten, M., van Kempen, A., Norbuis, O., Pajkrt, D., van der Sluijs, J., Vlieger, A., van Well, G. & PRIEMA Study Grp, 16 Sep 2019, In : Vaccine. 37, 39, p. 5862-5867 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Booklet for Childhood Fever in Out-of-Hours Primary Care: A Cluster-Randomized Controlled Trial

de Bont, E. G. P. M., Dinant, G-J., Elshout, G., van Well, G., Francis, N. A., Winkens, B. & Cals, J. W. L., 1 Jul 2018, In : Annals of Family Medicine. 16, 4, p. 314-321 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype

Volker-Touw, C. M. L., de Koning, H. D., Giltay, J. C., de Kovel, C. G. F., van Kempen, T. S., Oberndorff, K. M. E. J., Boes, M. L., van Steensel, M. A. M., van Well, G. T. J., Blokx, W. A. M., Schalkwijk, J., Simon, A., Frenkel, J. & van Gijn, M. E., Jan 2017, In : British Journal of Dermatology. 176, 1, p. 244-248 5 p.

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review