Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous <i>KDM5B</i> Variants

by Sébastien Lebon, Mathieu Quinodoz, Virginie G. Peter, Carole Gengler, Gaëlle Blanchard, Viviane Cina, Belinda Campos-Xavier, Carlo Rivolta, Andrea Superti-Furga
Published 2021-09-01

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

by Filipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, Beryl Royer-Bertrand, Heidi Fodstad, Carlo Rivolta, Claudia Poloni, Andrea Superti-Furga, Eliane Roulet-Perez, Sebastien Lebon
Published 2020-01-01

Sultiame pharmacokinetic profile in plasma and erythrocytes after single oral doses: A pilot study in healthy volunteers

by Kim Dao, Paul Thoueille, Laurent A. Decosterd, Thomas Mercier, Monia Guidi, Carine Bardinet, Sébastien Lebon, Eva Choong, Arnaud Castang, Catherine Guittet, Luc‐André Granier, Thierry Buclin
Published 2020-02-01