1. 2013
  2. Double jeopardy : Identification of a Fragile X full mutation associated with Turner Syndrome in a prenatal case.

    Seneca, S., Bael, A. M., Van Berkel, K., Staessen, C., Stouffs, K., Lissens, W. & Bonduelle, M-L., 15 Mar 2013, BeSHG. p. 74-74 1 p.

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

  3. Double Jeopardy: Identification of a Fragile X full mutation associated with Turner Syndrome in a prenatal case

    Seneca, S., Bael, A. M., Van Berkel, K., Staessen, C., Stouffs, K., Lissens, W. & Bonduelle, M., 15 Mar 2013.

    Research output: Unpublished contribution to conferencePoster

  4. Sertoli cell-only syndrome: search for genetic causes

    Stouffs, K., Van Dyck, G., Vandermaelen, D., Seneca, S., Van Den Bogaert, A., Tournaye, H. & Lissens, W., 15 Mar 2013, BeSHG. 1 p.

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

  5. 15 years of Yq microdeletion analysis in UZ Brussel

    Vandermaelen, D., Lissens, W., Van Dyck, G., Bessems, S., Seneca, S., Tournaye, H., Bonduelle, M-L. & Stouffs, K., 15 Mar 2013, Abstractbook BeSHG. p. 37-37 1 p.

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

  6. Pyruvate Dehydrogenase-E1a Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation

    Singhi, P., De Meirleir, L., Lissens, W., Singhi, S. & Gahlot Saini, A., 12 Feb 2013, In : JIMD Rep. 10, p. 107-111 5 p.

    Research output: Contribution to journalArticle

  7. Early Fatal outcome in two patients with defect in NFU1

    Van Coster, R., Smet, J., De Paepe, B., Vanlander, A., De Latter, E., De Meirleir, L., Lissens, W. & Seneca, S., 2013, EPNS.

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

  8. Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: Case study and literature review

    Tanyalcin, I., Verhelst, H., Halley, D. J. J., Vanderhasselt, T., Villard, L., Goizet, C., Lissens, W., Mancini, G. & Jansen, A., 2013, In : Eur J Paediatr Neurol. 17, November, p. 666-670 5 p.

    Research output: Contribution to journalArticle

  9. Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation

    Singhi, P., De Meirleir, L., Lissens, W., Singhi, S. & Saini, A. G., 2013, In : JIMD Rep. 10, p. 107-111 5 p.

    Research output: Contribution to journalArticle

  10. 2012
Previous 1 2 3 4 5 6 7 8 ...39 Next

ID: 48399