European journal of medical genetics, 1769-7212

Journal

  1. 2020
  2. 2019
  3. 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. (2019). PRRT2-related phenotypes in patients with a 16p11.2 deletion. European journal of medical genetics, 62(4), 265-269. https://doi.org/10.1016/j.ejmg.2018.08.002
  4. 2018
  5. 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. (2018). Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe. European journal of medical genetics, 61(9), 499-507. https://doi.org/10.1016/j.ejmg.2018.05.014
  6. 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., ... Morris, J. K. (2018). Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age: A EUROCAT study. European journal of medical genetics, 61(9), 483-488. https://doi.org/10.1016/j.ejmg.2018.05.010
  7. Morris, J. K., Garne, E., Loane, M., Addor, M-C., Barisic, I., Bianchi, F., Gatt, M., Lanzoni, M., Lynch, C., Mokoroa, O., Nelen, V., Neville, A., O'Mahony, M. T., Randrianaivo-Ranjatoelina, H., Rissmann, A., Tucker, D., de Walle, H. E. K., Zymak-Zakutnia, N., & Rankin, J. (2018). Prevalence of valproate syndrome in Europe from 2005 to 2014: A registry based multi-centre study. European journal of medical genetics, 61(9), 479-482. https://doi.org/10.1016/j.ejmg.2018.05.008
  8. 2017
  9. 2015
  10. Maas, S. M., Shaw, A. C., Bikker, H., Luedecke, H-J., van der Tuin, K., Badura-Stronka, M., Belligni, E., Biamino, E., Bonati, M. T., Carvalho, D. R., Cobben, J., de Man, S. A., Den Hollander, N. S., Di Donato, N., Garavelli, L., Gronborg, S., Herkert, J. C., Hoogeboom, A. J. M., Jamsheer, A., ... Hennekam, R. C. (2015). Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. European journal of medical genetics, 58(5), 279-292. https://doi.org/10.1016/j.ejmg.2015.03.002
  11. Semaka, A., Kay, C., Belfroid, R. D. M., Bijlsma, E. K., Losekoot, M., van Langen, I. M., van Maarle, M. C., Oosterloo, M., Hayden, M. R., & van Belzen, M. J. (2015). A new mutation for Huntington disease following maternal transmission of an intermediate allele. European journal of medical genetics, 58(1), 28-30. https://doi.org/10.1016/j.ejmg.2014.11.005
  12. 2013
  13. Vulto-van Silfhout, A. T., van Ravenswaaij, C. M. A., Hehir-Kwa, J. Y., Verwiel, E. T. P., Dirks, R., van Vooren, S., Schinzel, A., de Vries, B. B. A., & de Leeuw, N. (2013). An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations. European journal of medical genetics, 56(9), 471-474. https://doi.org/10.1016/j.ejmg.2013.06.010
  14. Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Blezer, M. M. J., Weber, J. W., Schrander, J. J. P., Rubio-Gozalbo, M. E., Bakker, J. A., Stegmann, A. P. A., Vos, Y. J., & Frints, S. G. M. (2013). Adducted thumbs: A clinical clue to genetic diagnosis. European journal of medical genetics, 56(3), 153-158. https://doi.org/10.1016/j.ejmg.2012.11.004
  15. 2011
  16. McGowan, R., Gulati, R., McHenry, P., Cooke, A., Butler, S., Keng, W. T., Murday, V., Whiteford, M., Dikkers, F. G., Sikkema-Raddatz, B., van Essen, T., & Tolmie, J. (2011). Clinical features and respiratory complications in Myhre syndrome. European journal of medical genetics, 54(6), E553-E559. https://doi.org/10.1016/j.ejmg.2011.07.001
  17. Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Krapels, P. C., de Die-Smulders, C. E. M., van Lint, F. H. M., Willekes, C., Weber, J. W., Gavilanes, A. W. D., Macville, M. V. E., Stegmann, A. P. A., Engelen, J. J. M., Bakker, J., Vos, Y. J., & Frints, S. G. M. (2011). Congenital hydrocephalus in clinical practice: A genetic diagnostic approach. European journal of medical genetics, 54(6), E542-E547. https://doi.org/10.1016/j.ejmg.2011.06.005
  18. 2010
  19. Caliebe, A., Kroes, H. Y., van der Smagt, J. J., Martin-Subero, J. I., Toennies, H., van 't Slot, R., Nievelstein, R. A. J., Muhle, H., Stephani, U., Alfke, K., Stefanova, I., Hellenbroich, Y., Gillessen-Kaesbach, G., Hochstenbach, R., Siebert, R., & Poot, M. (2010). Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. European journal of medical genetics, 53(4), 179-185. https://doi.org/10.1016/j.ejmg.2010.04.001
  20. 2009
  21. Gijsbers, A. C. J., Schuurs-Hoeijmakers, J. H. M., van Haeringen, A., van de Putte, D. E. F., Anderlid, B. -M., Lundin, J., Lapunzina, P., Perez Jurado, L. A., Delle Chiaie, B., Loeys, B., Menten, B., Oostra, A., Verhelst, H., Amor, D. J., Bruno, D. L., van Essen, A. J., Hordijk, R., Sikkema-Raddatz, B., Verbruggen, K. T., ... Bijlsma, E. (2009). Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals. European journal of medical genetics, 52(2-3), 77-87. https://doi.org/10.1016/j.ejmg.2009.03.006
  22. 2008
  23. Kroes, H. Y., van Zon, P. H. A., de Putte, D. F. V., Nelen, M. R., Nievelstein, R-J., Wittebol-Post, D., Van Nieuwenhulzen, O., Mancini, G. M. S., van der Knaap, M. O. S., Kwee, M. L., Maas, S. M., Cobben, J. M., De Nef, J. E. E., Lindhout, D., & Sinke, R. J. (2008). DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands. European journal of medical genetics, 51(1), 24-34. https://doi.org/10.1016/j.ejmg.2007.10.001
  24. Menke, L. A., Bijlsma, E. K., van Essen, A. J., van den Boogaard, M-J. H., van Rijn, R. R., & Cobben, J. M. (2008). Ectrodactyly with fibular aplasia: A separate entity? European journal of medical genetics, 51(5), 488-496. https://doi.org/10.1016/j.ejmg.2008.04.001
  25. 2007
  26. 2005

ID: 4343301