EJHG, 1018-4813

Journal

Related Publications
  1. Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary

    Voorwinden, J. S., Plantinga, M., Ausems, M., Knoers, N., Velthuizen, M., Birnie, E., Lucassen, A. M., Ranchor, A. V. & van Langen, I. M., 27-Apr-2020, In : EJHG. 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Boosting genotype-phenotype and translational research on rare diseases by establishing Findable, Accessible, Interoperable and Reusable (FAIR) data resources through data linking technologies

    van Enckevort, D., Carta, C., Thompson, R., Thompson, M., Ehrhart, F., Kaliyaperumal, R., Reihs, R., Sernadela, P., Jacobsen, A., Santos, L. O. B. D. S., Wilkinson, M. D., Mueller, H., Evelo, C. T. A., Oliveira, J. L., 't Hoen, P. A. C., Taruscio, D. & Roos, M., Oct-2018, In : European Journal of Human Genetics. 26, p. 708-708 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  3. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

    Wijnen, I. G. M., Veenstra-Knol, H. E., Vansenne, F., Gerkes, E. H., de Koning, T., Vos, Y. J., Tijssen, M. A. J., Sival, D., Darin, N., Vanhoutte, E. K., Oosterloo, M., Pennings, M., van de Warrenburg, B. P. & Kamsteeg, E-J., 10-Mar-2020, In : EJHG. 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

    Pennings, M., Schouten, M., van Gaalen, J., Meijer, R. P. P., de Bot, S. T., Kriek, M., Saris, C. G. J., van den Berg, L. H., van Es, M. A., Zuidgeest, D. M. H., Elting, M. W., van de Kamp, J. M., Van Spaendonck-Zwarts, K. Y., de Die-Smulders, C., Brilstra, E. H., Verschuuren, C. C., de Vries, B. B. A., Bruijn, J., Sofou, K., Duijkers, F. A., Jaeger, B., Schieving, J. H., van de Warrenburg, B. P. & Kamsteeg, E-J., Jan-2020, In : European Journal of Human Genetics. 28, 1, p. 40-49 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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