1. 2020
  2. 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    Research output: Unpublished contribution to conferencePoster

  3. 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

  4. 2019
  5. 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

  6. 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

  7. 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

  8. 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)

  9. A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau disease

    Vanbinst, A. M., Brussaard, C., Vergauwen, E., Van Velthoven, V., Kuijpers, R., Michel, O., Foulon, I., Jansen, A. C., Lefevere, B., Bohler, S., Keymolen, K., De Mey, J., Michielsen, D., Andreescu, C. E. & Gläsker, S., 29 Jul 2019, In : Hereditary Cancer in Clinical Practice. 17, 1, 6 p., 22.

    Research output: Contribution to journalArticle

  10. Correction to: The landscape of epilepsy-related GATOR1 variants

    Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., Martin, A. D. S., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S. & 68 others, Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F., Braun, K., Jong, D. D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M-L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A-S., Jennesson, M., Sattar, S., Marchal, C., NordliJr, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A-S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., Bellescize, J. D., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., Jul 2019, In : Genetics in Medicine. 21, 7, p. 1671 1 p.

    Research output: Contribution to journalComment/debate

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

    De Wandeler, T., De Brucker, Y., Jansen, A. & Vanderhasselt, T., 14 Jun 2019, In : Acta Neurologica Belgica.

    Research output: Contribution to journalArticle

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