1. 2019
  2. A novel missense PLP1 mutation causing PLP1-related spastic paraplegia: a Case Report

    Sammels, E., Fieremans, N., Fieuw, A., Cannaerts, E., Van Den Bogaert, A., Vanhoucke, E., Sys, M., Keymolen, K. & Dimitrov, B., 2019, (Accepted/In press).

    Research output: Unpublished contribution to conferencePosterResearch

  3. 2017
  4. Two cases of a "skeletal" syndrome: the illustration of a variable, broad clinical spectrum

    De Rademaeker, M., Dimitrov, B., Laumen, A. & Keymolen, K., 2017, Two cases of a "skeletal" syndrome: the illustration of a variable, broad clinical spectrum. p. 42-42 1 p.

    Research output: Chapter in Book/Report/Conference proceedingMeeting abstract (Book)Research

  5. 2016
  6. Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene

    Irving, M. D., Dimitrov, B. I., Wessels, M., Holder-Espinasse, M., Chitayat, D. & Simpson, M. A., Dec 2016, In : American Journal of Medical Genetics Part A. 170, 12, p. 3133-3137 5 p.

    Research output: Contribution to journalArticleResearchpeer-review

  7. 2015
  8. 3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients

    Dimitrov, B. I., Ogilvie, C., Wieczorek, D., Wakeling, E., Sikkema-Raddatz, B., van Ravenswaaij-Arts, C. M. A. & Josifova, D., Jun 2015, In : American Journal of Medical Genetics Part A. 167, 6, p. 1223-1230 8 p.

    Research output: Contribution to journalArticleResearchpeer-review

  9. 2010
  10. Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly

    Dimitrov, B. I., Voet, T., De Smet, L., Vermeesch, J. R., Devriendt, K., Fryns, J-P. & Debeer, P., Aug 2010, In : Journal of Medical Genetics. 47, 8, p. 569-574 6 p.

    Research output: Contribution to journalArticleResearchpeer-review

  11. Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

    Dimitrov, B. I., de Ravel, T., Van Driessche, J., de Die-Smulders, C., Toutain, A., Vermeesch, J. R., Fryns, J. P., Devriendt, K. & Debeer, P., Feb 2010, In : Journal of Medical Genetics. 47, 2, p. 103-111 9 p.

    Research output: Contribution to journalArticleResearchpeer-review

  12. 2009
  13. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

    Kirchhoff, M., Bisgaard, AM., Dimitrov, B., Stoeva, R., Gillessen Kaesbach, G., Fryns, J. P., Rose, H., Grozdanova, L., Ivanov, I., Keymolen, K., Fagerberg, C., Tranebjaerg, L., Skovby, F. & Stefanova, M., May 2009, In : Am J Med Genet A. 149A, 5, p. 894-905 11 p.

    Research output: Contribution to journalArticleResearchpeer-review

  14. Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations

    Stoeva, R. E., Grozdanova, L. I., Vermeesch, J. R., Kirchhoff, M., Fryns, J-P., Ivanov, I. S., Patcheva, I. H., Dimitrov, B. I., Krastev, T. B., Linev, A. J. & Stefanova, M. T., 13 Feb 2009, In : Folia Medica. 50, 4, p. 55-62 8 p.

    Research output: Contribution to journalArticleResearchpeer-review

ID: 30590720