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Egidio Spinelli

Showing results (1-10 of 8) with videos related to

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Pediatric Neurology Briefs|October 3, 2018
Gut Microbiota, the Ketogenic Diet and EpilepsyEgidio Spinelli, Robyn Blackford
American Journal of Medical Genetics. Part A|April 9, 2020
Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylationEmily M Bryant, John J Millichap, Egidio Spinelli, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephalyNicholas Raun, Janette Mailo, Egidio Spinelli, et al.
Human Mutation|July 14, 2019
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34Ranad Shaheen, Paul Mark, Christopher T Prevost, et al.
Neurology|March 6, 2025
Genotype-Phenotype Landscape of <i>NALCN</i> and <i>UNC80</i>-Related DisordersPaloma Parra-Díaz, Arnaud Monteil, Daniel Calame, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-DyskinesiaKathleen M Gorman, Esther Meyer, Detelina Grozeva, et al.
Annals of Neurology|June 29, 2021
Pathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, et al.
Neurology|June 26, 2025
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function VariantsAlessandra Rossi, Susan X N Lin, Nathan L Absalom, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Pediatric Neurology Briefs|October 3, 2018
Gut Microbiota, the Ketogenic Diet and EpilepsyEgidio Spinelli, Robyn Blackford
American Journal of Medical Genetics. Part A|April 9, 2020
Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylationEmily M Bryant, John J Millichap, Egidio Spinelli, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephalyNicholas Raun, Janette Mailo, Egidio Spinelli, et al.
Human Mutation|July 14, 2019
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34Ranad Shaheen, Paul Mark, Christopher T Prevost, et al.
Neurology|March 6, 2025
Genotype-Phenotype Landscape of <i>NALCN</i> and <i>UNC80</i>-Related DisordersPaloma Parra-Díaz, Arnaud Monteil, Daniel Calame, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-DyskinesiaKathleen M Gorman, Esther Meyer, Detelina Grozeva, et al.
Annals of Neurology|June 29, 2021
Pathogenic MAST3 Variants in the STK Domain Are Associated with EpilepsyEgidio Spinelli, Kyle R Christensen, Emily Bryant, et al.
Neurology|June 26, 2025
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function VariantsAlessandra Rossi, Susan X N Lin, Nathan L Absalom, et al.
Pageof 1