Tessa van Dijk

DR.

20172018
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Research Output 2017 2018

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

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

RARS2 mutations: Is pontocerebellar hypoplasia type 6 a mitochondrial encephalopathy?

van Dijk, T., van Ruissen, F., Jaeger, B., Rodenburg, R. J., Tamminga, S., van Maarle, M., Baas, F., Wolf, N. I. & Poll-The, B. T., 2017, JIMD Reports. Springer, Vol. 33. p. 87-92 (JIMD Reports).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Press / Media

DNA-onderzoek vaak nuttig

Lidewij Henneman & Tessa van Dijk

20/09/2019

1 media contribution

Press/Media: Expert Comment