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  1. 2022

  2. Parents' views on accepting, declining, and expanding newborn bloodspot screening

    van der Pal, S. M., Wins, S., Klapwijk, J. E., van Dijk, T., Kater-Kuipers, A., van der Ploeg, C. P. B., Jans, S. M. P. J., Kemp, S., Verschoof-Puite, R. K., van den Bosch, L. J. M. & Henneman, L., 1 Aug 2022, In: PLoS ONE. 17, 8 August, e0272585.

    Research output: Contribution to journal › Article › Academic › peer-review

  3. 2021

  4. Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective

    van Dijk, T., Kater, A., Jansen, M., Dondorp, W. J., Blom, M., Kemp, S., Langeveld, M., Cornel, M. C., van der Pal, S. M. & Henneman, L., 6 Oct 2021, In: Frontiers in pediatrics. 9, 706394.

    Research output: Contribution to journal › Article › Academic › peer-review

  5. Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia

    van Dijk, T., Barth, P., Baas, F., Reneman, L. & Poll-The, B. T., 1 Jun 2021, In: Neuropediatrics. 52, 3, p. 163-169 7 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  6. Informing parents about newborn screening: A european comparison study

    Ijzebrink, A., van Dijk, T., Franková, V. R., Loeber, G., Kožich, V., Henneman, L. & Jansen, M., 2021, In: International Journal of Neonatal Screening. 7, 1, 13.

    Research output: Contribution to journal › Article › Academic › peer-review

  7. 2018

  8. A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia

    van Dijk, T., Vermeij, J-D., van Koningsbruggen, S., Lakeman, P., Baas, F. & Poll-The, B. T., 2018, In: Journal of inherited metabolic disease. 41, 5, p. 897-898

    Research output: Contribution to journal › Article › Academic › peer-review

  9. 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., 2018, In: European journal of human genetics. 26, 12, p. 1752-1758

    Research output: Contribution to journal › Article › Academic › peer-review

  10. Pontocerebellar hypoplasia: Genes and phenotypes

    van Dijk, T., 2018

    Research output: PhD Thesis › Phd-Thesis - Research and graduation internal

  11. What's new in pontocerebellar hypoplasia? An update on genes and subtypes

    van Dijk, T., Baas, F., Barth, P. G. & Poll-The, B. T., 2018, In: Orphanet journal of rare diseases. 13, 1, 92.

    Research output: Contribution to journal › Review article › Academic › peer-review

  12. 2017

  13. A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's

    van Dijk, T., Barth, P., Reneman, L., Appelhof, B., Baas, F. & Poll-The, B. T., 2017, In: American journal of medical genetics. Part A. 173A, 1, p. 207-212

    Research output: Contribution to journal › Article › Academic › peer-review

  14. Optimizing VAP scars after childhood cancer treatment: a pilot study

    de Bruijn, C. M. A., Hoff, F. W., Bruggeman-Westermann, M. M., Terra, J. B., van Dijk, T. H., de Bont, E. S. J. M. & Peek, A. M. L., 2017, In: Supportive care in cancer. 25, 12, p. 3651-3654 4 p.

    Research output: Contribution to journal › Article › Academic › peer-review

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