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Affichage: 6 résultats.
    • Article de périodique
    PTGIR, a susceptibility gene for fibromuscular dysplasia?
    Persu, Alexandre[UCL] Vikkula, Miikka[UCL] Loeys, Bart (2021) Cardiovascular research — Vol. 117, no. 4, p. 990-992 (2021)
    • Article de périodique
    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)
    • Rapport de recherche
    Direct-to-consumer genetic testing services
    Borry, Pascal Poirel, Hélène[UCL] Baatout, Sarah Blaumeiser, Bettina Cassiman, Jean-Jacques de Thibault de Boesinghe, Léopold Fondu, Michel Godderis, Lode Haufroid, Vincent[UCL] Hulstaert, Frank Kirsch-Volders, Micheline Liebaers, Inge Loeys, Bart Poppe, Bruce Schamps, Geneviève[UCL] Van Larebeke, Nicolas Van Nerom, Anne Van Oyen, Herman Dumoulin, Christine[UCL] Vikkula, Miikka[UCL] (2012)
    • Article de périodique
    Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia
    Verstraeten, Aline Perik, Melanie Baranowska, Anna Meester, Josephina Van Den Heuvel, Lotte Bastianen, Jarl Kempers, Marlies Krapels, IPC Maas, Angela Rideout, Andrea Vandersteen, Anthony Sobey, Glenda Johnson, Diana Fransen, Erik Ghali, Neeti Webb, Tom Al-Hussaini, Abtehale de Leeuw, Peter Delmotte, Philippe Lopez-Sublet, Marilucy Pappaccogli, Marco[UCL] Sprynger, Muriel Toubiana, Laurent Van Leer, Lut van Dijk, Fleur Vikkula, Miikka[UCL] Samani, Nilesh Persu, Alexandre[UCL] Adlam, David Loeys, Bart (2020) Circulation — Vol. 142, no. 10, p. 1021-1024 (2020)
    • Article de périodique
    Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases.
    Papadimitriou, Sofia Gravel, Barbara Nachtegael, Charlotte De Baere, Elfride Loeys, Bart Vikkula, Miikka[UCL] Smits, Guillaume Lenaerts, Tom (2023) HGG advances — Vol. 4, no.1, p. 100165 [1-11] (2023)
    • Article de périodique
    Expanded Mutational Spectrum in Cohen Syndrome, Tissue Expression, and Transcript Variants of COH1
    Seifert, Wenke Holder-Espinasse, Muriel Kuehnisch, Jirko Kahrizi, Kimia Tzschach, Andreas Garshasbi, Masoud Najmabadi, Hossein Kuss, Andreas Walter Kress, Wolfram Laureys, Genevieve Loeys, Bart Brilstra, Eva Mancini, Grazia M. S. Dollfus, Helene Dahan, Karin[UCL] Apse, Kira Hennies, Hans Christian Horn, Denise (2009) Human Mutation — Vol. 30, no. 2, p. E404-20 (2009)