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Displaying 4 results.
    • Journal article
    An exome-wide study of renal operational tolerance.
    Massart, Annick Danger, Richard Olsen, Catharina Emond, Mary J Viklicky, Ondrej Jacquemin, Valérie Soblet, Julie Duerinckx, Sarah Croes, Didier[UCL] Perazzolo, Camille Hruba, Petra Daneels, Dorien Caljon, Ben Sever, Mehmet Sukru Pascual, Julio Miglinas, Marius Renal Tolerance Investigators Pirson, Isabelle Ghisdal, Lidia Smits, Guillaume Giral, Magali Abramowicz, Daniel Abramowicz, Marc Brouard, Sophie (2023) Frontiers in medicine — Vol. 9, p. 976248 [1-12] (2022)
    • 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
    Autosomal recessive primary microcephaly due to ASPM mutations: An update
    Létard, Pascaline Drunat, Séverine Vial, Yoann Duerinckx, Sarah Ernault, Anais Amram, Daniel Arpin, Stéphanie Bertoli, Marta Busa, Tiffany Ceulemans, Berten Desir, Julie Doco-Fenzy, Martine Elalaoui, Siham Chafai Devriendt, Koenraad Faivre, Laurence Francannet, Christine Geneviève, David Gérard, Marion Gitiaux, Cyril Julia, Sophie Lebon, Sébastien Lubala, Toni Mathieu-Dramard, Michèle Maurey, Hélène Metreau, Julia Nasserereddine, Sanaa Nizon, Mathilde Pierquin, Geneviève Pouvreau, Nathalie Rivier-Ringenbach, Clothilde Rossi, Massimiliano Schaefer, Elise Sefiani, Abdelaziz Sigaudy, Sabine Sznajer, Yves[UCL] Tunca, Yusuf Guilmin Crepon, Sophie Alberti, Corinne Elmaleh-Bergès, Monique Benzacken, Brigitte Wollnick, Bernd Woods, C. Geoffrey Rauch, Anita Abramowicz, Marc El Ghouzzi, Vincent Gressens, Pierre Verloes, Alain Passemard, Sandrine (2018) Human Mutation — Vol. 39, no. 3, p. 319-332 (2018)
    • Journal article
    Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
    Jacquemin, Valerie Versbraegen, Nassim Duerinckx, Sarah Massart, Annick Soblet, Julie Perazzolo, Camille Deconinck, Nicolas Brischoux-Boucher, Elise De Leener, Anne[UCL] Revencu, Nicole[UCL] Janssens, Sandra Moorgat, Stèphanie Blaumeiser, Bettina Avela, Kristiina Touraine, Renaud Abou Jaoude, Imad Keymolen, Kathelijn Saugier-Veber, Pascale Lenaerts, Tom Abramowicz, Marc Pirson, Isabelle (2023) Human genomics — Vol. 17, no. 1, p. 16 [1-14] (2023)