Severe congenital microcephaly with AP4M1 mutation, a case report

by Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz
Published 2017-05-01

LARS2-Perrault syndrome: a new case report and literature review

by Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, Hélène Cao-van, Nils Guinand, Ariane Paoloni-Giacobino
Published 2020-05-01

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

by Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino
Published 2021-08-01

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.

by Mariana Igoillo-Esteve, Anne Genin, Nelle Lambert, Julie Désir, Isabelle Pirson, Baroj Abdulkarim, Nicolas Simonis, Anais Drielsma, Lorella Marselli, Piero Marchetti, Pierre Vanderhaeghen, Décio L Eizirik, Wim Wuyts, Cécile Julier, Ali J Chakera, Sian Ellard, Andrew T Hattersley, Marc Abramowicz, Miriam Cnop
Published 2013-10-01

Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome

by Debora Fumagalli, David Gacquer, Françoise Rothé, Anne Lefort, Frederick Libert, David Brown, Naima Kheddoumi, Adam Shlien, Tomasz Konopka, Roberto Salgado, Denis Larsimont, Kornelia Polyak, Karen Willard-Gallo, Christine Desmedt, Martine Piccart, Marc Abramowicz, Peter J. Campbell, Christos Sotiriou, Vincent Detours
Published 2015-10-01

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

by Kashyap A. Patel, Jarno Kettunen, Markku Laakso, Alena Stančáková, Thomas W. Laver, Kevin Colclough, Matthew B. Johnson, Marc Abramowicz, Leif Groop, Päivi J. Miettinen, Maggie H. Shepherd, Sarah E. Flanagan, Sian Ellard, Nobuya Inagaki, Andrew T. Hattersley, Tiinamaija Tuomi, Miriam Cnop, Michael N. Weedon
Published 2017-10-01

Donor-Derived Myeloid Heme Oxygenase-1 Controls the Development of Graft-Versus-Host Disease

by Chloé Spilleboudt, Virginie De Wilde, Virginie De Wilde, Philippe Lewalle, Ludovic Cabanne, Ludovic Cabanne, Mathieu Leclerc, Mathieu Leclerc, Florence Beckerich, Florence Beckerich, Dominique Bories, Dominique Bories, Silvia Cardoso, Miguel P. Soares, Benoît Vokaer, Jean-Michel Hougardy, Véronique Flamand, Judith Racapé, Judith Racapé, Marc Abramowicz, Sébastien Maury, Sébastien Maury, Alain Le Moine, Alain Le Moine
Published 2021-01-01

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