20182019

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Article
2019

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Jansen, S., van der Werf, I. M., Innes, A. M., Afenjar, A., Agrawal, P. B., Anderson, I. J., Atwal, P. S., van Binsbergen, E., van den Boogaard, M-J., Castiglia, L., Coban-Akdemir, Z. H., van Dijck, A., Doummar, D., van Eerde, A. M., van Essen, A. J., van Gassen, K. L., Sacoto, M. J. G., van Haelst, M. M., Iossifov, I., Jackson, J. L. & 31 others, Judd, E., Kaiwar, C., Keren, B., Klee, E. W., Wassink-Ruiter, J. S. K., Meuwissen, M. E., Monaghan, K. G., de Munnik, S. A., Nava, C., Ockeloen, C. W., Pettinato, R., Racher, H., Rinne, T., Romano, C., Sanders, V. R., Schnur, R. E., Smeets, E. J., Stegmann, A. P. A., Stray-Pedersen, A., Sweetser, D. A., Terhal, P. A., Tveten, K., VanNoy, G. E., de Vries, P. F., Waxler, J. L., Willing, M., Pfundt, R., Veltman, J. A., Kooy, R. F., Vissers, L. E. L. M. & de Vries, B. B. A., May 2019, In : European Journal of Human Genetics. 27, 5, p. 738-746 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Protocol for a prospective, longitudinal cohort study on the effect of arterial disease level on the outcomes of supervised exercise in intermittent claudication: the ELECT Registry

van den Houten, M. M. L., Jansen, S. C. P., Sinnige, A., van der Laan, L., Vriens, P. W. H. E., Willigendael, E. M., Lardenoije, J-W. H. P., Elshof, J-W. M., van Hattum, E. S., Lijkwan, M. A., Nyklicek, I., Rouwet, E. V., Koelemay, M. J. W., Scheltinga, M. R. M. & Teijink, J. A. W., Jun 2019, In : BMJ Open. 9, 2, 9 p., 025419.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Blok, L. S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A. & 31 others, Agbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., van Essen, T., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., Bialer, M. G., Moore, C., Jansen, S., Brunner, H. G. & DDD Study, 5 Nov 2018, In : Nature Communications. 9, 1, 12 p., 4619.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access