1. 2019
  2. 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 othersNikkels, 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 journalArticleResearchpeer-review

  3. 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., Dec 2019, In : Hereditary Cancer in Clinical Practice. 17, 1, 6 p., 22.

    Research output: Contribution to journalArticleResearchpeer-review

  4. 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 othersSander, 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 journalArticleResearchpeer-review

  5. 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 othersDemmers, 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 journalArticleResearchpeer-review

  6. 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 journalArticleResearchpeer-review

  7. 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 journalArticleResearchpeer-review

  8. 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, 6 p., 22.

    Research output: Contribution to journalArticleResearchpeer-review

  9. 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 othersBalestrini, 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.

    Research output: Contribution to journalComment/debateResearch

  10. 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 journalArticleResearchpeer-review

  11. Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

    Moavero, R., Benvenuto, A., Emberti Gialloreti, L., Siracusano, M., Kotulska, K., Weschke, B., Riney, K., Jansen, F. E., Feucht, M., Krsek, P., Nabbout, R., Jansen, A. C., Wojdan, K., Borkowska, J., Sadowski, K., Hertzberg, C., Hulshof, H., Samueli, S., Benova, B., Aronica, E. & 4 othersKwiatkowski, D. J., Lagae, L., Jozwiak, S. & Curatolo, P., 3 Jun 2019, In : Journal of Clinical Medicine. 8, 6, 17 p., 788.

    Research output: Contribution to journalArticleResearchpeer-review

Previous 1 2 3 4 5 6 7 8 ...18 Next

ID: 79216