1. 2020
  2. SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

    Zaman, T., Helbig, K. L., Clatot, J., Thompson, C. H., Kang, S. K., Stouffs, K., Jansen, A. E., Verstraete, L., Jacquinet, A., Parrini, E., Guerrini, R., Fujiwara, Y., Miyatake, S., Ben-Zeev, B., Bassan, H., Reish, O., Marom, D., Hauser, N., Vu, T-A., Ackermann, S. & 16 others, Spencer, C. E., Lippa, N., Srinivasan, S., Charzewska, A., Hoffman-Zacharska, D., Fitzpatrick, D., Harrison, V., Vasudevan, P., Joss, S., Pilz, D. T., Fawcett, K. A., Helbig, I., Matsumoto, N., Kearney, J. A., Fry, A. E. & Goldberg, E. M., 1 Aug 2020, In : Annals of Neurology. 88, 2, p. 348-362 15 p.

    Research output: Contribution to journalArticle

  3. Defining the phenotypical spectrum associated with variants in TUBB2A

    Brock, S., Vanderhasselt, T., Vermaning, S., Keymolen, K., Régal, L., Romaniello, R., Wieczorek, D., Storm, T. M., Schaeferhoff, K., Hehr, U., Kuechler, A., Krägeloh-Mann, I., Haack, T. B., Kasteleijn, E., Schot, R., Mancini, G. M. S., Webster, R., Mohammad, S., Leventer, R. J., Mirzaa, G. & 5 others, Dobyns, W. B., Bahi-Buisson, N., Meuwissen, M., Jansen, A. C. & Stouffs, K., 22 Jun 2020, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  4. Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD)

    Duquesne, S., Nassogne, M-C., Clapuyt, P., Stouffs, K. & Sznajer, Y., 18 Jun 2020, In : European Journal of Medical Genetics. 63, 9, 4 p., 103991.

    Research output: Contribution to journalScientific review

  5. 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    Research output: Unpublished contribution to conferencePoster

  6. 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    Research output: Unpublished contribution to conferencePoster

  7. 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S., Stouffs, K., De Dobbeleer, G., Jansen, A., Regal, L., Jonckheere, A., Sermon, K. & Gheldof, A., 6 Mar 2020, (Unpublished).

    Research output: Unpublished contribution to conferencePoster

  8. 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

  9. 2019
  10. 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)

  11. 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

  12. Germ line gene panel analysis in a HBOC population

    Seneca, S., De Greve, J., Bonduelle, M., Joris, S., Keymolen, K., De Rademaeker, M., Stouffs, K. & Gheldof, A., Jul 2019, In : European Journal of Human Genetics. 27, p. 406-406 1 p.

    Research output: Contribution to journalMeeting abstract (Journal)

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