EJHG, 1018-4813

Journal

Related Publications
  1. National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

    Elsink, K., Huibers, M. M. H., Hollink, I. H. I. M., van der Veken, L. T., Ernst, R. F., Simons, A., Zonneveld-Huijssoon, E., van der Hout, A. H., Abbott, K. M., Hoischen, A., Pieterse, M., Kuijpers, T. W., van Montfrans, J. M. & van Gijn, M. E., 30-Jul-2020, In : European Journal of Human Genetics. 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

    CAUSES Study, Nambot, S., Faivre, L., Mirzaa, G., Thevenon, J., Bruel, A-L., Mosca-Boidron, A-L., Masurel-Paulet, A., Goldenberg, A., Le Meur, N., Charollais, A., Mignot, C., Petit, F., Rossi, M., Metreau, J., Layet, V., Amram, D., Boute-Benejean, O., Bhoj, E., Cousin, M. A., Kruisselbrink, T. M., Lanpher, B. C., Klee, E. W., Fiala, E., Grange, D. K., Meschino, W. S., Hiatt, S. M., Cooper, G. M., Olivie, H., Smith, W. E., Dumas, M., Lehman, A., Adam, S., du Souich, C., Elliott, A. M., Mwenifumbo, J., Nelson, T. N., van Karnebeek, C., Friedman, J. M., Inglese, C., Nizon, M., Guerrini, R., Vetro, A., Kaplan, E. S., Miramar, D., Van Gils, J., Fergelot, P., Bodamer, O., Herkert, J. C., Pajusalu, S. & Li, D., Jun-2020, In : European Journal of Human Genetics. 28, 6, p. 770-782 13 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  3. BBMRI-ERIC's contributions to research and knowledge exchange on COVID-19

    BBMRI-ERIC Community, Holub, P., Kozera, L., Florindi, F., van Enckevort, E., Swertz, M., Reihs, R., Wutte, A., Valik, D. & Mayrhofer, M. T., Jun-2020, In : European Journal of Human Genetics. 28, 6, p. 728-731 4 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. 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

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