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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 12, 2020
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patientsGanna Balagura, Antonella Riva, Francesca Marchese, et al.
Genes|February 25, 2022
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of PatientsAlessandro Orsini, Andrea Santangelo, Francesca Bravin, 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.
Neurology. Genetics|March 4, 2021
Genotype-phenotype correlations in patients with de novo <i>KCNQ2</i> pathogenic variantsFederica Malerba, Giulio Alberini, Ganna Balagura, et al.
Epilepsia|October 29, 2025
Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International WorkshopAntonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, et al.
Seizure|April 8, 2021
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European studyFederico Raviglione, Sofia Douzgou, Marcello Scala, et al.
Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i>-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.
Neurology|November 11, 2018
Neurologic phenotypes associated with <i>COL4A1</i>/<i>2</i> mutations: Expanding the spectrum of diseaseSara Zagaglia, Christina Selch, Jelena Radic Nisevic, 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.
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