dr. J.E.H. (Jorieke) van Kammen-Bergman

dr. J.E.H. (Jorieke) van Kammen-Bergman
E-mail:
j.e.h.van.kammen umcg.nl

Research

  1. 2019
  2. Yu, X., Nassar, N., Mastroiacovo, P., Canfield, M., Groisman, B., Bermejo-Sanchez, E., ... Agopian, A. J. (2019). Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980-2010. European Urology, 76(4), 482-490. https://doi.org/10.1016/j.eururo.2019.06.027
  3. Coi, A., Santoro, M., Garne, E., Pierini, A., Addor, M-C., Alessandri, J-L., ... Barisic, I. (2019). Epidemiology of achondroplasia: A population-based study in Europe. American Journal of Medical Genetics. Part A, 179(9), 1791-1798. https://doi.org/10.1002/ajmg.a.61289
  4. 2018
  5. Morris, J. K., Springett, A. L., Greenlees, R., Loane, M., Addor, M-C., Arriola, L., ... Dolk, H. (2018). Trends in congenital anomalies in Europe from 1980 to 2012. PLoS ONE, 13(4), [0194986]. https://doi.org/10.1371/journal.pone.0194986
  6. 2017
  7. 2016
  8. Morris, J. K., Rankin, J., Garne, E., Loane, M., Greenlees, R., Addor, M-C., ... Dolk, H. (2016). Prevalence of microcephaly in Europe: population based study. BMJ (Clinical research ed.), 354, [4721]. https://doi.org/10.1136/bmj.i4721
  9. 2015
  10. 2014
  11. Barisic, I., Boban, L., Greenlees, R., Garne, E., Wellesley, D., Calzolari, E., ... Dolk, H. (2014). Holt Oram syndrome: a registry-based study in Europe. Orphanet journal of rare diseases, 9, [156]. https://doi.org/10.1186/s13023-014-0156-y
  12. Best, K. E., Addor, M-C., Arriola, L., Balku, E., Barisic, I., Bianchi, F., ... Rankin, J. (2014). Hirschsprung's Disease Prevalence in Europe: A Register Based Study. Birth Defects Research. Part A: Clinical and Molecular Teratology, 100(9), 695-702. https://doi.org/10.1002/bdra.23269
  13. 2013
  14. Barisic, I., Odak, L., Loane, M., Garne, E., Wellesley, D., Calzolari, E., ... Tenconi, R. (2013). Fraser syndrome: epidemiological study in a European population. American Journal of Medical Genetics. Part A, 161A(5), 1012-1018. https://doi.org/10.1002/ajmg.a.35839
  15. 2012
  16. Janssen, N., Bergman, J. E. H., Swertz, M. A., Tranebjaerg, L., Lodahl, M., Schoots, J., ... Hoefsloot, L. H. (2012). Mutation update on the CHD7 gene involved in CHARGE syndrome. Human Mutation, 33(8), 1149-1160. https://doi.org/10.1002/humu.22086
  17. 2011
  18. 2010
  19. Morava, E., Wevers, R. A., Cantagrel, V., Hoefsloot, L. H., Al-Gazali, L., Schoots, J., ... Lefeber, D. J. (2010). A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain, 133, 3210-3220. https://doi.org/10.1093/brain/awq261
  20. Batsukh, T., Pieper, L., Koszucka, A. M., von Velsen, N., Hoyer-Fender, S., Elbracht, M., ... Pauli, S. (2010). CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. Human Molecular Genetics, 19(14), 2858-2866. https://doi.org/10.1093/hmg/ddq189
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