European journal of medical genetics, 1769-7212

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  1. A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin

    McGregor-Schuerman, M., Sang, A. L. F., Bihari, S., Ramdajal, N., Suijkerbuijk, R. F. & van Ravenswaaij-Arts, C. M., Jun-2020, In : European journal of medical genetics. 63, 6, 5 p., 103922.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. "There is a chance for me" - Risk communication in advanced maternal age genetic counseling sessions in South Africa

    Wessels, T. M. & Koole, T., May-2019, In : European journal of medical genetics. 62, 5, p. 390-396 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

    Barisic, I., Boban, L., Akhmedzhanova, D., Bergman, J. E. H., Cavero-Carbonell, C., Grinfelde, I., Materna-Kiryluk, A., Latos-Bielenska, A., Randrianaivo, H., Zymak-Zakutnya, N., Sansovic, I., Lanzoni, M. & Morris, J. K., Sep-2018, In : European journal of medical genetics. 61, 9, p. 499-507 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age: A EUROCAT study

    Garne, E., Rissmann, A., Addor, M-C., Barisic, I., Bergman, J., Braz, P., Cavero-Carbonell, C., Draper, E. S., Gatt, M., Haeusler, M., Klungsoyr, K., Kurinczuk, J. J., Lelong, N., Luyt, K., Lynch, C., O'Mahony, M. T., Mokoroa, O., Nelen, V., Neville, A. J., Pierini, A., Randrianaivo, H., Rankin, J., Rouget, F., Schaub, B., Tucker, D., Verellen-Dumoulin, C., Wellesley, D., Wiesel, A., Zymak-Zakutnia, N., Lanzoni, M. & Morris, J. K., Sep-2018, In : European journal of medical genetics. 61, 9, p. 483-488 6 p.

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  5. PRRT2-related phenotypes in patients with a 16p11.2 deletion

    Vlaskamp, D. R. M., Callenbach, P. M. C., Rump, P., Giannini, L. A. A., Brilstra, E. H., Dijkhuizen, T., Vos, Y. J., van der Kevie-Kersemaekers, A-M. F., Knijnenburg, J., de Leeuw, N., van Minkelen, R., Ruivenkamp, C. A. L., Stegmann, A. P. A., Brouwer, O. F. & van Ravenswaaij-Arts, C. M. A., Apr-2019, In : European journal of medical genetics. 62, 4, p. 265-269 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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