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Affichage: 4 résultats.
    • Article de périodique
    Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.
    Blauen, Aglaé[UCL] Stutterd, Chloe A Stouffs, Katrien Dumitriu, Dana Ioana[UCL] Deggouj, Naima[UCL] Lockhart, Paul J Leventer, Richard J Nassogne, Marie-Cécile[UCL] Jansen, Anna C (2021) Journal of child neurology — Vol. 36, no. 2, p. 152-158 (2021)
    • Article de périodique
    Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
    Stouffs, Katrien Moortgat, Stéphanie Vanderhasselt, Tim Vandervore, Laura Dica, Alice Mathot, Mikaël[UCL] Keymolen, Kathelijn Seneca, Sara Gheldof, Alexander De Meirleir, Linda Jansen, Anna C (2018) European journal of medical genetics — Vol. 61, no. 12, p. 733-737 (2018)
    • Article de périodique
    Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
    Maia, Nuno Potelle, Sven[UCL] Yildirim, Hamide Duvet, Sandrine Akula, Shyam K Schulz, Celine Wiame, Elsa[UCL] Gheldof, Alexander O'Kane, Katherine Lai, Abbe Sermon, Karen Proisy, Maïa Loget, Philippe Attié-Bitach, Tania Quelin, Chloé Fortuna, Ana Maria Soares, Ana Rita de Brouwer, Arjan P M Van Schaftingen, Emile[UCL] Nassogne, Marie-Cécile[UCL] Walsh, Christopher A Stouffs, Katrien Jorge, Paula Jansen, Anna C Foulquier, François (2022) American journal of human genetics — Vol. 109, no. 2, p. 345-360 (2022)
    • Article de périodique
    Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD).
    Duquesne, Sophie[UCL] Nassogne, Marie-Cécile[UCL] Clapuyt, Philippe[UCL] Stouffs, Katrien Sznajer, Yves[UCL] (2020) European journal of medical genetics — Vol. 63, no.9, p. 103991 [1-4] (2020)