EJHG, 1018-4813

Journal

Related Publications
  1. Predictive genetic testing in Huntington's disease: should a neurologist be involved?

    Oosterloo, M., Bijlsma, E. K., Verschuuren-Bemelmans, C. C., Schouten, M., de Die-Smulders, C. & Roos, R. A. C., Sep-2020, In : European Journal of Human Genetics. 28, 9, p. 1205-1209 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome

    Kleinendorst, L., van den Heuvel, L. M., Henneman, L. & van Haelst, M. M., Sep-2020, In : EJHG. 28, 9, p. 1196-1204 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. 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. 1, p. 20-28 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. 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

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