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Human Mutation|May 24, 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypesMarcello Scala, Nathalie Drouot, Suzanna C MacLennan, et al.Neurology|June 3, 2021
Clinical and Genetic Features in Patients With Reflex Bathing EpilepsyAndrea Accogli, Gert Wiegand, Marcello Scala, et al.Orphanet Journal of Rare Diseases|July 19, 2022
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disordersPaola Borgia, Simona Baldassari, Nicoletta Pedemonte, et al.Cerebellum (London, England)|February 26, 2022
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar DevelopmentAndrea Accogli, Shenzhao Lu, Ilaria Musante, et al.American Journal of Human Genetics|February 22, 2024
De novo variants in DENND5B cause a neurodevelopmental disorderMarcello Scala, Valeria Tomati, Matteo Ferla, et al.Neurology|March 22, 2022
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic VariantsNiklas Schwarz, Simone Seiffert, Manuela Pendziwiat, et al.Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i>-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.Pageof 6