Inge Mathijssen

20082019
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Research Output 2008 2019

  • 7 Article
  • 2 Meeting Abstract

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

van Dijk, T., Ferdinandusse, S., Ruiter, J. P. N., Alders, M., Mathijssen, I. B., Parboosingh, J. S., Innes, A. M., Meijers-Heijboer, H., Poll-The, B. T., Bernier, F. P., Wanders, R. J. A., Lamont, R. E. & Baas, F., 1 Dec 2018, In : European Journal of Human Genetics. 26, 12, p. 1752-1758 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Evaluation of an expanded carrier screening offer in a non commercial setting

Lakeman, P., van Koningsbruggen, S., Redeker, E. J. W., Ottenheim, C. P. E., Mathijssen, I. B., Cornel, M. C., Mannens, M. M. A. M., Meijers-Heijboer, E. J. & Henneman, L., Oct 2018, In : European Journal of Human Genetics. 26, p. 82-83

Research output: Contribution to journalMeeting AbstractAcademic

Further delineation of Malan syndrome

Priolo, M., Schanze, D., Tatton-Brown, K., Mulder, P. A., Tenorio, J., Kooblall, K., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G. & 34 othersHuber, I., Iascone, M., Kaiser, A-S., Kamath, A., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Menke, L. A., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Valdez, R. M., van Haeringen, A., van Hagen, J. M., Zollino, M., Lapunzina, P., Thakker, R. V., Zenker, M. & Hennekam, R. C., 2018, In : Human Mutation. 39, 9, p. 1226-1237

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Homozygous DMRT2 variant associates with severe rib malformations in a newborn

Bouman, A., Waisfisz, Q., Admiraal, J., van de Loo, M., van Rijn, RR., Micha, D., Oostra, R. J. & Mathijssen, IB., May 2018, In : American Journal of Medical Genetics Part A. 176, 5, p. 1216-1221

Research output: Contribution to journalArticleAcademicpeer-review