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Affichage: 4 résultats.
    • Article de périodique
    Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia
    Moortgat, Stéphanie Lederer, Damien Deprez, Marie Buzatu, Marga Clapuyt, Philippe[UCL] Boulanger, Sébastien Benoit, Valérie Mary, Sandrine Guichet, Agnès Ziegler, Alban Colin, Estelle Bonneau, Dominique Maystadt, Isabelle (2018) European Journal of Medical Genetics — Vol. 61, no. 8, p. 442-450 (2018)
    • Article de périodique
    Discordant monozygotic twins for macrocephaly-capillary malformation
    Lederer, Damien[UCL] Rack, Katrina Boulanger, Sébastien Battisti, Oreste Verellen-Dumoulin, Christine[UCL] (2012) American Journal of Medical Genetics. Part A — Vol. 158 A, no. 6, p. 1509-1511 (2012)
    • Article de périodique
    Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat, Stéphanie Désir, Julie Benoit, Valérie Boulanger, Sébastien Pendeville, Hélène Nassogne, Marie-Cécile[UCL] Lederer, Damien Maystadt, Isabelle (2016) American Journal of Medical Genetics. Part A — Vol. 170, no.11, p. 2927-2933 (2016)
    • Article de périodique
    Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.
    Balbeur, Samuel Grisart, Bernard Parmentier, Benoit Sartenaer, Daniel Leonard, Pierre-Emmanuel Ullmann, Urielle Boulanger, Sébastien Leroy, Luc Ngendahayo, Placide Lungu-Silviu, Constantin Lysy, Philippe Maystadt, Isabelle (2016) Clinical case reports — Vol. 4, no.3, p. 265-271 (2016)