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

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Genetics in medicine - ISSN 1098-3600-27:4 (2025) p. 1-13
Auteur(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

Congenital myasthenic syndromes in Belgium : genetic and clinical characterization of pediatric and adult patients

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Pediatric neurology - ISSN 0887-8994-158 (2024) p. 57-65
Auteur(s)
    Nathalie Smeets, Alexander Gheldof, Bart Dequeker, Margaux Poleur, Sofia Maldonado Slootjes, Vinciane Van Parijs, Nicolas Deconinck, Pauline Dontaine, Alicia Alonso Jimenez, Jan De Bleecker, Willem De Ridder, Sarah Herdewyn, Stephanie Paquay, Arnaud Vanlander, Liesbeth De Waele, Geertrui Peirens, Diane Beysen, Kristl G. Claeys, Nicolas Dubuisson, Isabelle Hansen, Gauthier Remiche, Sara Seneca, Veronique Bissay, Luc Regal

Role of CAMK2D in neurodevelopment and associated conditions

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The American journal of human genetics - ISSN 0002-9297-111:2 (2024) p. 1-20
Auteur(s)
    Pomme M.F. Rigter, Charlotte de Konink, Matthew J. Dunn, Martina Proietti Onori, Jennifer B. Humberson, Matthew Thomas, Caitlin Barnes, Carlos E. Prada, K. Nicole Weaver, Thomas D. Ryan, Oana Caluseriu, Jennifer Conway, Emily Calamaro, Chin-To Fong, Wim Wuyts, Marije Meuwissen, Eva Hordijk, Carsten N. Jonkers, Lucas Anderson, Berfin Yuseinova, Sarah Polonia, Diane Beysen, Zornitza Stark, Elena Savva, Cathryn Poulton, Fiona McKenzie, Elizabeth Bhoj, Caleb P. Bupp, Stephane Bezieau, Sandra Mercier, Amy Blevins, Ingrid M. Wentzensen, Fan Xia, Jill A. Rosenfeld, Tzung-Chien Hsieh, Peter M. Krawitz, Miriam Elbracht, Danielle C.M. Veenma, Howard Schulman, Margaret M. Stratton, Sebastien Kury, Geeske M. van Woerden