1. 2011
  2. Neonatal mild Complex IV deficiency with a fatal outcome is caused by COX15 gene mutations

    Seneca, S., Vancampenhout, K., Smet, J., Van Coster, R., Dom, L., Ullmann, U., Lissens, W., Van Dooren, S., Bonduelle, M-L. & De Meirleir, L., 20 Jun 2011, euromit.

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

  3. Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation

    Bissay, V., Keymolen, K., Lissens, W., Laureys, G., Schmedding, E. & De Keyser, J., 12 Jun 2011, In : Neuromuscul Disord. 21, 8, p. 590-593 4 p.

    Research output: Contribution to journalArticle

  4. Discordance for retinitis pigmentosa in two monozygotic twin pairs

    Lv, B., Rh, D. M., F, C., O, D. O. M. J., Wy, T., Lissens, W., E, D. B. & Leroy, B., 1 Jun 2011, In : Retina. 31, 6, p. 1164-1169 6 p.

    Research output: Contribution to journalArticle

  5. Array-CGH analysis in patients with maturation arrest of spermatogenesis

    Stouffs, K., Vandermaelen, D., Massart, A., Menten, B., Tournaye, H. & Lissens, W., 28 May 2011, In : Eur J Hum Genet. suppl2, 19, p. 162 1 p.

    Research output: Contribution to journalEditorial

  6. Evaluation of a CGG Repeat Primed PCR system, designed for detection of Fragile X expanded alleles, in clinical prenatal samples.

    Seneca, S., Van Dooren, S., Lissens, W., Keymolen, K., De Rademaeker, M. & Bonduelle, M-L., 28 May 2011, In : European Journal of Human Genetics. 19, p. 178-178 1 p.

    Research output: Contribution to journalMeeting abstract (Journal)

  7. Facilitating the Fragile X post- and prenatal genetic diagnostic testing workflow by use of the Abbott FMR1 TP-PCR and FMR1 sizing PCR products.

    Van Dooren, S., Seneca, S., Endels, K., Keymolen, K., De Rademaeker, M., Kim, V. B., Lissens, W. & Bonduelle, M-L., 28 May 2011, In : European Journal of Human Genetics. 19, p. 178-178 1 p.

    Research output: Contribution to journalConference paper

  8. Functional analysis of CCDC54, a protein likely involved in spermatogenesis

    Massart, A., Breckpot, K., Tournaye, H., Lissens, W. & Stouffs, K., 28 May 2011, In : Eur J Hum Genet. suppl2, 19, p. 159 1 p.

    Research output: Contribution to journalEditorial

  9. Functional analysis of CCDC54, a protein likely involved in spermatogenesis.

    Massart, A., Breckpot, K., Tournaye, H., Lissens, W. & Stouffs, K., 28 May 2011, In : Eur J Hum Genet. 19, p. 159-159 1 p.

    Research output: Contribution to journalEditorial

  10. Novel variants of beta-subunits of sodium channel genes in Brugada Syndrome

    Komurcu-Bayrak, E., Endels, K., Lissens, W., Seneca, S., Bayrak, F., Sarkozy, A., Brugada, P., Bonduelle, M-L. & Van Dooren, S., 28 May 2011, In : European Journal of Human Genetics. p. 276-276 1 p.

    Research output: Contribution to journalConference paper

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