First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII

by Hazim Kadhim, Valérie Segers, Catheline Vilain, Julie Désir, Nicky D’Haene
Published 2017-01-01

Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5‐epilepsy

by Roberto Santalucia, Catheline Vilain, Julie Soblet, Corinne De Laet, Aline Vuckovic, Jörg König, Alec Aeby
Published 2022-07-01

The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?

by Fiorenza Ulgiati, Sophie Lhoir, Irina Balikova, Sylvie Tenoutasse, Emese Boros, Catheline Vilain, Claudine Heinrichs, Cécile Brachet
Published 2021-11-01

Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature Infant

by Giovanna D’Amico, Corinne De Laet, Guillaume Smits, Deborah Salik, Guillaume Deprez, Catheline Vilain, Pascale Perlot, Alfredo Vicinanza
Published 2021-08-01

A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

by Claire Balza, Giulia Garofalo, Teresa Cos, Julie Désir, Xin Kang, Kathelijn Keymolen, Julie Soblet, Kim Van Berkel, Catheline Vilain, Wafa Ben Abbou, Marie Cassart
Published 2021-12-01

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

by Pascal Brouillard, Matthieu J. Schlögel, Nassim Homayun Sepehr, Raphaël Helaers, Angela Queisser, Elodie Fastré, Simon Boutry, Sandra Schmitz, Philippe Clapuyt, Frank Hammer, Anne Dompmartin, Annamaria Weitz-Tuoretmaa, Jussi Laranne, Louise Pasquesoone, Catheline Vilain, Laurence M. Boon, Miikka Vikkula
Published 2021-06-01

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

by Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra, Giovanni Battista Ferrero, Marion Gerard, Bertrand Isidor, Shelagh Joss, Florence Niel-Bütschi, Maria Dolores Perrone, Florence Petit, Alessandra Renieri, Serge Romana, Alexandra Topa, Joris Robert Vermeesch, Tom Lenaerts, Georges Casimir, Marc Abramowicz, Gianluca Bontempi, Catheline Vilain, Nicolas Deconinck, Guillaume Smits
Published 2017-07-01

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

by Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz
Published 2021-09-01

An exome-wide study of renal operational tolerance

by Annick Massart, Annick Massart, Annick Massart, Richard Danger, Catharina Olsen, Catharina Olsen, Catharina Olsen, Mary J. Emond, Ondrej Viklicky, Valérie Jacquemin, Valérie Jacquemin, Julie Soblet, Julie Soblet, Julie Soblet, Sarah Duerinckx, Sarah Duerinckx, Didier Croes, Didier Croes, Didier Croes, Didier Croes, Camille Perazzolo, Petra Hruba, Dorien Daneels, Dorien Daneels, Dorien Daneels, Ben Caljon, Ben Caljon, Mehmet Sukru Sever, Julio Pascual, Julio Pascual, Marius Miglinas, the Renal Tolerance Investigators, Isabelle Pirson, Lidia Ghisdal, Guillaume Smits, Guillaume Smits, Magali Giral, Magali Giral, Magali Giral, Daniel Abramowicz, Marc Abramowicz, Marc Abramowicz, Marc Abramowicz, Sophie Brouard, Sophie Brouard, Sophie Brouard, Maria Aguilar Rodríguez, Friederike Bachmann, Rajendra Bahadur Shahi, Frederike Bemelman, Luboslav Bena, Luigi Biancone, Laura Braun, Klemens Budde, Alejandro Camargo-Salamanca, Katia Clemente, Hulya Colak, Adrian Covic, Jacques Degreve, Philippe Gatault, François Glowacki, Karine Hadaya, Marc Hazzan, Bénédicte Janbon, Christophe Legendre, Umberto Maggiore, Marius Miglinas, Anja Mühlfeld, Maarten Naesens, Christian Noël, Rainer Oberbauer, Evangeline Pillebout, Gian Benedetto Piredda, Francesco Pisani, Ana Ramírez Puga, Tomas Reischig, Francisco González-Roncero, Søren Schwartz Sørensen, Daniel Seron Micas, Nurhan Seyahi, Dimitrie Siriopol, Goce Spasovski, Jean-François Subra, Erik Teugels, Serhan Tuǧlular, Sonia Van Dooren, Catheline Vilain, Florence Villemain, Xavier Warling, Bruno Watschinger, Laurent Weekers
Published 2023-05-01