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Displaying 5 results.
    • Journal article
    Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.
    Brouillard, Pascal[UCL] Schlögel, Matthieu[UCL] Homayun Sepehr, Nassim[UCL] Helaers, Raphaël[UCL] Queisser, Angela[UCL] Fastré, Elodie[UCL] Boutry, Simon[UCL] Schmitz, Sandra[UCL] Clapuyt, Philippe[UCL] Hammer, Frank[UCL] Dompmartin, Anne[UCL] Weitz-Tuoretmaa, Annamaria Laranne, Jussi Pasquesoone, Louise Vilain, Catheline Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2021) Orphanet journal of rare diseases — Vol. 16, no. 1, p. 267 [1-12] (2021)
    • Journal article
    Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges
    Vanakker, Olivier Vilain, Catheline Janssens, Katrien Van der Aa, Nathalie Smits, Guillaume Bandelier, Claude[UCL] Blaumeiser, Bettina Bulk, Saskia Caberg, Jean-Hubert De Leener, Anne De Rademaeker, Marjan de Ravel, Thomy Desir, Julie Destree, Anne Dheedene, Annelies Gaillez, Stéphane Grisart, Bernard Hellin, Ann-Cécile Janssens, Sandra Keymolen, Kathelijn Menten, Björn Pichon, Bruno Ravoet, Marie[UCL] Revencu, Nicole[UCL] Rombout, Sonia Staessens, Catherine Van Den Bogaert, Ann Van Den Bogaert, Kris Vermeesch, Joris R. Kooy, Frank Sznajer, Yves[UCL] Devriendt, Koen (2014) European Journal of Medical Genetics — Vol. 57, no. 4, p. 151-156 (2014)
    • Journal article
    Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
    Duerinckx, Sarah Désir, Julie Perazzolo, Camille Badoer, Cindy Jacquemin, Valérie Soblet, Julie Maystadt, Isabelle Tunca, Yusuf Blaumeiser, Bettina Ceulemans, Berten Courtens, Winnie Debray, François-Guillaume Destree, Anne Devriendt, Koenraad Jansen, Anna Keymolen, Kathelijn Lederer, Damien Loeys, Bart Meuwissen, Marije Moortgat, Stéphanie[UCL] Mortier, Geert Nassogne, Marie-Cécile[UCL] Sekhara, Tayeb Van Coster, Rudy Van Den Ende, Jenny Van der Aa, Nathalie Van Esch, Hilde Vanakker, Olivier Verhelst, Helene Vilain, Catheline Weckhuysen, Sarah Passemard, Sandrine Verloes, Alain Aeby, Alec Deconinck, Nicolas Van Bogaert, Patrick Pirson, Isabelle Abramowicz, Marc (2021) Molecular genetics & genomic medicine — Vol. 9, no. 9, p. e1768 [1-19] (2021)
    • Journal article
    Posterior staphyloma with congenital stationary night blindness
    Hemptinne, Coralie[UCL] Vilain, Catheline Postolache, Lavinia (2022) Journal français d'ophtalmologie — Vol. 45, no. 3, p. e167-e170 (2022)
    • Journal article
    Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy.
    Santalucia, Roberto Vilain, Catheline Soblet, Julie De Laet, Corinne Vuckovic, Aline König, Jörg Aeby, Alec[UCL] (2022) Annals of clinical and translational neurology — Vol. 9, no. 7, p. 1095-1099 (2022)