1. 2020
  2. Multinodular and vacuolating neuronal tumor of the cerebrum (MVNT): do not touch

    De Wandeler, T., De Brucker, Y., Jansen, A. & Vanderhasselt, T., Jun 2020, In : Acta Neurologica Belgica. 120, 3, p. 747-748 2 p.

    Research output: Contribution to journalArticle

  3. The association of CTDP1 mutation with malformations of cortical development

    Yildirim, H., Kerkhove, L., Dimitrov, B., Cannaerts, E., Sermon, K., Stouffs, K. & Jansen, A., 6 Mar 2020.

    Research output: Unpublished contribution to conferencePoster

  4. The involvement of MAN2C1 in the development of cortical malformations

    Kerkhove, L., Yildirim, H., Seneca, S., Gheldof, A., Dumitriu, D., Sermon, K., Jansen, A., Nassogne, M-C. & Stouffs, K., 6 Mar 2020.

    Research output: Unpublished contribution to conferencePoster

  5. Unraveling the molecular etiology of Pompe disease using RNA sequencing

    Vo Ngoc, D. T. L., Franck, S., Seneca, S., Stouffs, K., De Dobbeleer, G., Jansen, A., Regal, L., Jonckheere, A., Sermon, K. & Gheldof, A., 6 Mar 2020, (Unpublished).

    Research output: Unpublished contribution to conferencePoster

  6. Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

    Stouffs, K., Verloo, P., Brock, S., Regal, L., Beysen, D., Ceulemans, B., Jansen, A. & Meuwissen, M., 2020, In : Frontiers in Genetics. 11, 5 p., 26.

    Research output: Contribution to journalArticle

  7. 2019
  8. TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

    Vandervore, L. V., Schot, R., Milanese, C., Smits, D. J., Kasteleijn, E., Fry, A. E., Pilz, D. T., Brock, S., Börklü-Yücel, E., Post, M., Bahi-Buisson, N., Sánchez-Soler, M. J., van Slegtenhorst, M., Keren, B., Afenjar, A., Coury, S. A., Tan, W-H., Oegema, R., de Vries, L. S., Fawcett, K. A. & 29 others, Nikkels, P. G. J., Bertoli-Avella, A., Al Hashem, A., Alwabel, A. A., Tlili-Graiess, K., Efthymiou, S., Zafar, F., Rana, N., Bibi, F., Houlden, H., Maroofian, R., Person, R. E., Crunk, A., Savatt, J. M., Turner, L., Doosti, M., Karimiani, E. G., Saadi, N. W., Akhondian, J., Lequin, M. H., Kayserili, H., van der Spek, P. J., Jansen, A. C., Kros, J. M., Verdijk, R. M., Milošević, N. J., Fornerod, M., Mastroberardino, P. G. & Mancini, G. M. S., 5 Dec 2019, In : American Journal of Human Genetics. 105, 6, p. 1126-1147 22 p.

    Research output: Contribution to journalArticle

  9. Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

    Marques, R., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M., D'Amato, L., Beaure d'Augères, G., de Vries, P. J., Ferreira, J. C., Feucht, M., Fladrowski, C., Hertzberg, C., Jozwiak, S., Lawson, J. A., Macaya, A., Nabbout, R., O'Callaghan, F., Qin, J. & 9 others, Sander, V., Sauter, M., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B., Kingswood, J. C. & Jansen, A. C., 25 Oct 2019, In : Frontiers in Neurology. 10, 1144.

    Research output: Contribution to journalArticle

  10. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Magini, P., Smits, D. J., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., van der Ent, M., Palombo, F., Lequin, M. H., Dremmen, M., de Wit, M. C. Y., Severino, M., Divizia, M. T., Striano, P., Ordonez-Herrera, N., Alhashem, A., Al Fares, A., Al Ghamdi, M., Rolfs, A., Bauer, P. & 32 others, Demmers, J., Verheijen, F. W., Wilke, M., van Slegtenhorst, M., van der Spek, P. J., Seri, M., Jansen, A. C., Stottmann, R. W., Hufnagel, R. B., Hopkin, R. J., Aljeaid, D., Wiszniewski, W., Gawlinski, P., Laure-Kamionowska, M., Alkuraya, F. S., Akleh, H., Stanley, V., Musaev, D., Gleeson, J. G., Zaki, M. S., Brunetti-Pierri, N., Cappuccio, G., Davidov, B., Basel-Salmon, L., Bazak, L., Shahar, N. R., Bertoli-Avella, A., Mirzaa, G. M., Dobyns, W. B., Pippucci, T., Fornerod, M. & Mancini, G. M. S., 3 Oct 2019, In : American Journal of Human Genetics. 105, 4, p. 689-705 17 p.

    Research output: Contribution to journalArticle

  11. EP08.24: Malformations of cortical development: from prenatal diagnosis to postnatal outcome

    Garofalo, G., Marangoni, M., Jansen, A., Stouffs, K., Désir, J. & Cassart, M., Oct 2019, In : Ultrasound in Obstetrics and Gynecology. 54, S1, p. 284-284 1 p.

    Research output: Contribution to journalMeeting abstract (Journal)

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