Showing 1 - 6 results of 6 for search 'Sébastien Lebon', query time: 0.03s
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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
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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
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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
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Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of <i>GNAO1</i> and <i>GNAI1</i> for the Dominant Disease by Gonzalo P. Solis, Tatyana V. Kozhanova, Alexey Koval, Svetlana S. Zhilina, Tatyana I. Mescheryakova, Aleksandr A. Abramov, Evgeny V. Ishmuratov, Ekaterina S. Bolshakova, Karina V. Osipova, Sergey O. Ayvazyan, Sébastien Lebon, Ilya V. Kanivets, Denis V. Pyankov, Sabina Troccaz, Denis N. Silachev, Nikolay N. Zavadenko, Andrey G. Prityko, Vladimir L. Katanaev
Published 2021-10-01
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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures by Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O’Heir, Lindsay C. Burrage, Jake Allen, Lisa T. Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, Undiagnosed Diseases Network, Nadia Chabane, Elaine H. Zackai, Sebastien Lebon, Beth Keena, Elizabeth J. Bhoj, Muhammad Umair, Dong Li, Kirsten A. Donald, Andrea Superti-Furga
Published 2021-10-01
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