1. 2014
  2. Effect of Resveratrol on Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects

    De Paepe, B., Vandemeulebroecke, K., Smet, J., Vanlander, A., Seneca, S., Lissens, W., Van Hove, J., Deschepper, E., Briones, P. & Van Coster, R., 1 Feb 2014, In : Phytother Res. 28, February, p. 312-316 5 p.

    Research output: Contribution to journalArticle

  3. Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency.

    Bujan, N., Arias, A., Montero, R., Garcia-Villoria, J., Lissens, W., Seneca, S., Espinos, C., Navas, P., De Meirleir, L., Artuch, R., Briones, P. & Ribes, A., Jan 2014, In : J Inherit Metab Dis. 37, p. 53-62 10 p.

    Research output: Contribution to journalArticle

  4. A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome

    Vancampenhout, K., Caljon, B., Spits, C., Stouffs, K., Jonckheere, A., De Meirleir, L., Lissens, W., Vanlander, A., Smet, J., De Paepe, B., Van Coster, R. & Seneca, S., 2014, In : PLoS ONE. 9, 11, 9 p., e112950.

    Research output: Contribution to journalArticle

  5. 2013
  6. X Chromosome and Spermatogenesis Defects

    Stouffs, K. & Lissens, W., 15 Nov 2013, eLS. Wiley

    Research output: Chapter in Book/Report/Conference proceedingChapterResearchpeer-review

  7. Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).

    Scalais, E., Chafai, R., Van Coster, R., Bindl, L., Nuttin, C., Panagiotaraki, C., Seneca, S., Lissens, W., Ribes, A., Geers, C., Smet, J. & De Meirleir, L., Nov 2013, In : Eur J Paediatr Neurol. 17, November, p. 625-630 6 p.

    Research output: Contribution to journalArticle

  8. Use of next generation sequencing (NGS) in mitochondrial (mt) disorders: whole mitochondrial genome analysis

    Seneca, S., Vancampenhout, K., Van Dyck, G., Smet, J., Vanlander, A., Van Coster, R., Daneels, D., Lissens, W., Bonduelle, M-L. & De Meirleir, L., 22 Oct 2013, Abstractbook of American Society of Human Genetics 63rd Annual Meeting. p. 321-321 1 p. 2330F

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

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

    Stouffs, K., Van Dyck, G., Vandermaelen, D., Seneca, S., Tournaye, H. & Lissens, W., 19 Sep 2013, Florence-Utah International Symposium Genetics of Male Infertility. p. 5 1 p.

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

  10. Fatal Outcome of Iron-Sulfur Cluster Scaffold NFU1 Gene mutations in a Neonatal Patient.

    Seneca, S., Smet, J., Vanlander, A., Roland, D., Van Coster, R., De Paepe, B., Lissens, W., Bonduelle, M-L. & De Meirleir, L., 8 Jun 2013, Abstractbook : European Journal of Human Genetics. Vol. 21. p. 258-258 1 p.

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

  11. A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype

    Ullmann, U., Unuane, D., Velkeniers-Hoebanckx, B., Lissens, W., Wuyts, W. & Bonduelle, M-L., Jun 2013, In : Eur J Hum Genet. 21, June, p. 695-697 3 p.

    Research output: Contribution to journalArticle

  12. AmplideX FMR1 PCR kit as a substitute for the Southern blot technique to detect large CGG repeats in FMR1 gene

    Bessems, S., Timmermans, I., Vercammen, M., Van Der Wilt, L., Endels, K., Stouffs, K., Caljon, B., Lissens, W., Bonduelle, M-L. & Seneca, S., 15 Mar 2013, BeSHG. p. 115-115 1 p.

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

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