1. 2019
  2. 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., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S. & 69 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. E., Braun, K., de Jong, 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., Nordli, 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., de Bellescize, J., 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. & Baulac, S., Feb 2019, In : Genetics in Medicine. 21, 2, p. 398-408 11 p.

    Research output: Contribution to journalArticle

  3. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

    Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J. P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M. & 49 others, Jansen, A. C., Muaz, A., Chang, W. H., Bergerson, J., Laulederkind, S. J. F., Yüksel, Z., Beltran, S., Freeman, A. F., Sergouniotis, P. I., Durkin, D., Storm, A. L., Hanauer, M., Brudno, M., Bello, S. M., Sincan, M., Rageth, K., Wheeler, M. T., Oegema, R., Lourghi, H., Della Rocca, M. G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R. C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X. A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J. D., Leroux, D., Boerkoel, C. F., Klion, A., Carter, M. C., Groza, T., Smedley, D., Haendel, M. A., Mungall, C. & Robinson, P. N., 8 Jan 2019, In : Nucleic Acids Research. 47, D1, p. D1018-D1027 10 p.

    Research output: Contribution to journalArticle

  4. Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

    Jansen, A. C., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M., D'Amato, L., d'Augères, G. B., de Vries, P. J., Ferreira, J. C., Feucht, M., Fladrowski, C., Hertzberg, C., Jozwiak, S., Lawson, J. A., Macaya, A., Marques, R., Nabbout, R., O'Callaghan, F. & 9 others, Qin, J., Sander, V., Sauter, M., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B. & Kingswood, J. C., 2019, In : Frontiers in Neurology. 10, 9 p., 705.

    Research output: Contribution to journalArticle

  5. Fetal and neonatal neurogenetics

    Jansen, A. C. & Keymolen, K., 2019, In : Handbook of clinical neurology. 162, p. 105-132 28 p.

    Research output: Contribution to journalArticle

  6. Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study

    Jansen, A. C., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., 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., Marques, R., Nabbout, R., O'Callaghan, F., Qin, J. & 8 others, Sander, V., Sauter, M., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B. & Kingswood, J. C., 2019, In : Frontiers in Neurology. 10, 8 p., 821.

    Research output: Contribution to journalArticle

  7. Reintegration Into School After Treatment for a Brain Tumor: The Child's Perspective

    Vanclooster, S., Bilsen, J., Peremans, L., Van Der Werff Ten Bosch, J., Laureys, G., Paquier, P. & Jansen, A., 2019, In : Global pediatric health. 6, p. 1-10

    Research output: Contribution to journalArticle

  8. Speech and language in bilateral perisylvian polymicrogyria: a systematic review

    Braden, R. O., Leventer, R. J., Jansen, A., Scheffer, I. E. & Morgan, A. T., 2019, In : Developmental Medicine and Child Neurology. 61, 10, p. 1145-1152 8 p.

    Research output: Contribution to journalScientific review

  9. 2018
  10. Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations

    Stouffs, K., Moortgat, S., Vanderhasselt, T., Vandervore, L., Dica, A., Mathot, M., Keymolen, K., Seneca, S., Gheldof, A., De Meirleir, L. & Jansen, A. C., 1 Dec 2018, In : European Journal of Medical Genetics. 61, 12, p. 733-737 5 p.

    Research output: Contribution to journalArticle

  11. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis

    Vandervore, L. V., Schot, R., Hoogeboom, A. J. M., Lincke, C., de Coo, I. F., Lequin, M. H., Dremmen, M., van Unen, L. M. A., Saris, J. J., Jansen, A. C., van Slegtenhorst, M. A., Wilke, M. & Mancini, G. M. S., 1 Dec 2018, In : European Journal of Medical Genetics. 61, 12, p. 783-789 7 p.

    Research output: Contribution to journalArticle

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