Maternal Pre-Existing Diabetes: A Non-Inherited Risk Factor for Congenital Cardiopathies

por Ibrahim, Stéphanie, Gaborit, Bénédicte, Lenoir, Marien, Collod-Beroud, Gwenaelle, Stefanovic, Sonia
Publicado 2023

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

por Desmet, François-Olivier, Hamroun, Dalil, Lalande, Marine, Collod-Béroud, Gwenaëlle, Claustres, Mireille, Béroud, Christophe
Publicado 2009

UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

por Salgado, David, Desvignes, Jean‐Pierre, Rai, Ghadi, Blanchard, Arnaud, Miltgen, Morgane, Pinard, Amélie, Lévy, Nicolas, Collod‐Béroud, Gwenaëlle, Béroud, Christophe
Publicado 2016

Protein domains provide a new layer of information for classifying human variations in rare diseases

por Corcuff, Mélanie, Garibal, Marc, Desvignes, Jean-Pierre, Guien, Céline, Grattepanche, Coralie, Collod-Béroud, Gwenaëlle, Ménoret, Estelle, Salgado, David, Béroud, Christophe
Publicado 2023

New Topoisomerase I mutations are associated with resistance to camptothecin

por Gongora, Céline, Vezzio-Vie, Nadia, Tuduri, Sandie, Denis, Vincent, Causse, Annick, Auzanneau, Céline, Collod-Beroud, Gwenaëlle, Coquelle, Arnaud, Pasero, Philippe, Pourquier, Philippe, Martineau, Pierre, Del Rio, Maguy
Publicado 2011

Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish

por Odelin, Gaëlle, Faucherre, Adèle, Marchese, Damien, Pinard, Amélie, Jaouadi, Hager, Le Scouarnec, Solena, Chiarelli, Raphaël, Achouri, Younes, Faure, Emilie, Herbane, Marine, Théron, Alexis, Avierinos, Jean-François, Jopling, Chris, Collod-Béroud, Gwenaëlle, Rezsohazy, René, Zaffran, Stéphane
Publicado 2023

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

por Danielsson, Annika, Carecchio, Miryam, Cif, Laura, Koy, Anne, Lin, Jean-Pierre, Solders, Göran, Romito, Luigi, Lohmann, Katja, Garavaglia, Barbara, Reale, Chiara, Zorzi, Giovanna, Nardocci, Nardo, Coubes, Philippe, Gonzalez, Victoria, Roubertie, Agathe, Collod-Beroud, Gwenaelle, Lind, Göran, Tedroff, Kristina
Publicado 2019