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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 9, 2023
Genetic testing in children enrolled in epilepsy surgery program. A real-life studyBarbora Straka, Barbora Splitkova, Marketa Vlckova, et al.
Frontiers in Medicine|February 27, 2023
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani peoplePavlina Plevova, Jana Indrakova, Judy Savige, et al.
American Journal of Human Genetics|October 8, 2019
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive ImpairmentSarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, et al.
Human Mutation|July 16, 2015
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan SyndromeViviana Cordeddu, Jiani C Yin, Cecilia Gunnarsson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
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