1. 2012
  2. ANALYSIS OF COQ SYNTHESIS USING LABELED NON RADIOACTIVE SUBSTRATES. APPLICATION FOR THE DIAGNOSIS OF PRIMARY COQ10 DEFICIENCIES.

    Bujan, N., Arias, A., Montero, R., Garcia-Villoria, J., Lissens, W., Seneca, S., De Meirleir, L., Artuch, R., Briones, P. & Ribes, A., 3 Sep 2012, In : Journal of Inherited Metabolic Disease. 35, Supplement 1, p. 126-126 1 p.

    Research output: Contribution to journalConference paper

  3. Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms

    Mussche, S., De Paepe, B., Smet, J., Devreese, K., Lissens, W., Rasic, V. M., Murnane, M., Devreese, B. & Van Coster, R., 1 Aug 2012, In : Muscle Nerve. 46, p. 246-256 11 p.

    Research output: Contribution to journalArticle

  4. Leigh Syndrome with neonatal mild Complex IV deficiency caused by COX15 gene mutations

    Seneca, S., Vancampenhout, K., Smet, J., Vancoster, R., Dom, L., Ullmann, U., Lissens, W., Van Dooren, S. & De Meirleir, L., 23 Jun 2012, In : Eur J Hum Genet. 20, s1, p. 346-347 P13.23.

    Research output: Contribution to journalMeeting abstract (Journal)

  5. Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.

    De Paepe, B., Smet, J., Vanlander, A., Lissens, W., De Meirleir, L., Seneca, S., Vandewoestyne, M., Deforce, D., Rodenburg, R. & Vancoster, R., 22 Jun 2012, In : Pediatr Res. 72, sep, p. 232-240 9 p.

    Research output: Contribution to journalArticle

  6. Severe male factor: genetic consequences and recommendations for genetic testing

    Lissens, W. & Stouffs, K., 1 Jun 2012, Textbook of Assisted Reproductive Techniques. Gardner, D., Weissman, A., Howles, C. & Shoham, Z. (eds.). 4 ed. Boca Raton: Informa Healthcare, p. 236-335 12 p.

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

  7. X chromosomal mutations and spermatogenic failure

    Stouffs, K. & Lissens, W., 23 May 2012, In : Biochim Biophys Acta. 1822, 12, p. 1864-1872 9 p.

    Research output: Contribution to journalArticle

  8. Inborn oxidative phosphorylation defect as risk factor for propofol infusionsyndrome

    Vanlander, A., Jorens, P. G., Smet, J., De Paepe, B., Verbrugghe, W., Van Den Eynden, G. G., Meire, F., Pauwels, P., Van Der Aa, N., Seneca, S., Lissens, W., Okun, J. G. & Van Coster, R., Apr 2012, In : Acta Anaesthesiologica Scandinavica. 56, 4, p. 520-525

    Research output: Contribution to journalArticle

  9. COX15 gene mutations causing COX deficiency and Leigh syndrome

    Vancampenhout, K., De Meirleir, L., Van Dooren, S., Smet, J., Van Coster, R., Ullmann, U., Lissens, W., Bonduelle, M-L. & Seneca, S., 2 Mar 2012, Besgh meeting 2012.

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

  10. 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., Ullmann, U. & Bonduelle, M-L., 2 Mar 2012, Abstract book of the 12th Annual Meeting of the Belgian Society of Human Genetics. p. 34-34 1 p.

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

  11. 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., Van Berkel, K., Lissens, W. & Bonduelle, M-L., 2 Mar 2012, Abstract book of the 12th Annual Meeting of the Belgian Society of Human Genetics. p. 55-55 1 p.

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

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