Diane Beysen unpaid guest prof.

Publications Diane Beysen

Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia

Source
Molecular genetics and metabolism - ISSN 1096-7192-146:3 (2025) p. 1-8
Author(s)

A novel cause of type 1 von Willebrand disease : impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants

Source
Blood - ISSN 0006-4971-146:17 (2025) p. 2133-2144
Author(s)
    Sophie Hordijk, Stijn A. Groten, Petra E. Burgisser, Sebastiaan N.J. Laan, Georg Christoph Korenke, Tomas Honzik, Diane Beysen, Frank W.G. Leebeek, Paul A. Skehel, Maartje van den Biggelaar, Tom Carter, Ruben Bierings

RORA-neurodevelopmental disorder : a unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures

Source
Genetics in medicine - ISSN 1098-3600-27:4 (2025) p. 1-13
Author(s)
    Mariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, Xavier Le Guillou, Guylene le Meur, Matthieu Egloff, Bertrand Isidor, Benjamin Cogne, Diane Beysen, Paul Rollier, Melanie Fradin, Laurent Pasquier, Ilaria Guella, Scott E. Hickey, Paul J. Benke, Amelle Shillington, Candy Kumps, Olivier Vanakker, Erica H. Gerkes, Shenela Lakhani, Irina Romanova, Ilya Kanivets, Melanie Brugger, Katharina Vill, Raymond C. Caylor, Cindy Skinner, Rory J. Tinker, Tommy Stodberg, Astrid Numann, Tobias B. Haack, Natalie Deininger, Holger Hengel, Jeanne Jury, Solene Conrad, Sandra Mercier, Grace Yoon, Melissa Tsuboyama, Giulia Barcia, Cyril Gitiaux, Marlene Rio, Andrea Bevot, Sylvia Redon, Kevin Uguen, Antje Wonneberger, Alexander Schulz, Dagmar Timmann, Danielle Hays Karlowicz, Nicolas Chatron, Amanda Carnevale, Gaetan Lesca