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American Journal of Medical Genetics. Part A|September 2, 2024
Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 GeneElena Parrini, Simona Balestrini, Domenico Rutigliano, et al.
American Journal of Medical Genetics. Part A|August 26, 2018
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutationDalila De Vita, Davide Mei, Domenico Rutigliano, et al.
Human Mutation|November 20, 2016
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different GenesElena Parrini, Carla Marini, Davide Mei, et al.
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