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Identification and Characterization of a Novel Recurrent <i>ERCC6</i> Variant in Patients with a Severe Form of Cockayne Syndrome B by Khouloud Zayoud, Ichraf Kraoua, Asma Chikhaoui, Nadège Calmels, Sami Bouchoucha, Cathy Obringer, Clément Crochemore, Dorra Najjar, Sinda Zarrouk, Najoua Miladi, Vincent Laugel, Miria Ricchetti, Ilhem Turki, Houda Yacoub-Youssef
Published 2021-11-01
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Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv) by Elisabeth Wallach, Virginie Ehlinger, Maelle Biotteau, Ulrike Walther-Louvier, Yann Péréon, Carole Vuillerot, Stephanie Fontaine, Pascal Sabouraud, Caroline Espil-Taris, Jean-Marie Cuisset, Vincent Laugel, Eloïse Baudou, Catherine Arnaud, Claude Cances
Published 2023-11-01
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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress by Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Published 2020-07-01
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