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Displaying 3 results.
    • Journal article
    Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    Zweier, Christiane Peippo, Maarit M. Hoyer, Juliane Sousa, Sergio Bottani, Armand Clayton-Smith, Jill Reardon, William Saraiva, Jorge Cabral, Alexandra Goehring, Ina Devriendt, Koen de Ravel, Thomy Bijlsma, Emilia K. Hennekam, Raoul C. M. Orrico, Alfredo Cohen, Monika Dreweke, Alexander Reis, Andre Nuernberg, Peter Rauch, Anita (2007) American Journal of Human Genetics — Vol. 80, no. 5, p. 994-1001 (2007)
    • Journal article
    STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
    Lehalle, Daphné Mosca-Boidron, Anne-Laure Begtrup, Amber Boute-Benejean, Odile Charles, Perrine Cho, Megan T Clarkson, Amanda Devinsky, Orrin Duffourd, Yannis Duplomb-Jego, Laurence Gérard, Bénédicte Jacquette, Aurélia Kuentz, Paul Masurel-Paulet, Alice McDougall, Carey Moutton, Sébastien Olivié, Hilde Park, Soo-Mi Rauch, Anita Revencu, Nicole[UCL] Rivière, Jean-Baptiste Rubin, Karol Simonic, Ingrid Shears, Deborah J Smol, Thomas Taylor Tavares, Ana Lisa Terhal, Paulien Thevenon, Julien Van Gassen, Koen Vincent-Delorme, Catherine Willemsen, Marjolein H Wilson, Golder N Zackai, Elaine Zweier, Christiane Callier, Patrick Thauvin-Robinet, Christel Faivre, Laurence (2017) Journal of Medical Genetics — Vol. 54, no.7, p. 479-488 (2017)
    • Journal article
    Eight further individuals with intellectual disability and epilepsy carrying bi-allelicCNTNAP2aberrations allow delineation of the mutational and phenotypic spectrum
    Smogavec, Mateja Cleall, Alison Hoyer, Juliane Lederer, Damien Nassogne, Marie-Cécile[UCL] Palmer, Elizabeth E Deprez, Marie Benoit, Valérie Maystadt, Isabelle Noakes, Charlotte Leal, Alejandro Shaw, Marie Gecz, Jozef Raymond, Lucy Reis, André Shears, Deborah Brockmann, Knut Zweier, Christiane (2016) Journal of Medical Genetics — Vol. 53, no. 12, p. 820-827 (2016)