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Stephanie Efthymiou

Showing results (61-70 of 176) with videos related to

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Biomolecules|October 28, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat ExpansionsStefano Facchini, Natalia Dominik, Arianna Manini, et al.
Brain Sciences|September 28, 2021
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan SyndromeCeleste Casto, Valeria Dipasquale, Ida Ceravolo, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Biallelic variants in <i>COX18</i> cause a mitochondrial disorder primarily manifesting as peripheral neuropathyCamila Armirola-Ricaurte, Laura Morant, Isabelle Adant, et al.
Brain : a Journal of Neurology|August 20, 2025
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathyCamila Armirola-Ricaurte, Laura Morant, Isabelle Adant, et al.
Genes|June 26, 2026
Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar AtaxiaSeval Kılıç, Kerem Esmen, Jean-Loup Méreaux, et al.
Annals of Neurology|March 3, 2017
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndromeVincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Brain : a Journal of Neurology|June 27, 2022
Mutations in TAF8 cause a neurodegenerative disorderKeit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 1, 2018
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14Viorica Chelban, Sarah Wiethoff, Bjørn K Fabian-Jessing, et al.
Brain Communications|November 15, 2024
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income countryRodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Christopher J Record, et al.
Pageof 18

Showing results (61-70 of 176) with videos related to

Sort By:
Pageof 18
Biomolecules|October 28, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of <i>RFC1</i> Repeat ExpansionsStefano Facchini, Natalia Dominik, Arianna Manini, et al.
Brain Sciences|September 28, 2021
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan SyndromeCeleste Casto, Valeria Dipasquale, Ida Ceravolo, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Biallelic variants in <i>COX18</i> cause a mitochondrial disorder primarily manifesting as peripheral neuropathyCamila Armirola-Ricaurte, Laura Morant, Isabelle Adant, et al.
Brain : a Journal of Neurology|August 20, 2025
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathyCamila Armirola-Ricaurte, Laura Morant, Isabelle Adant, et al.
Genes|June 26, 2026
Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar AtaxiaSeval Kılıç, Kerem Esmen, Jean-Loup Méreaux, et al.
Annals of Neurology|March 3, 2017
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndromeVincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Brain : a Journal of Neurology|June 27, 2022
Mutations in TAF8 cause a neurodegenerative disorderKeit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 1, 2018
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14Viorica Chelban, Sarah Wiethoff, Bjørn K Fabian-Jessing, et al.
Brain Communications|November 15, 2024
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income countryRodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Christopher J Record, et al.
Pageof 18