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Stephanie Efthymiou

Showing results (21-30 of 176) with videos related to

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Journal of Pediatric Genetics|May 8, 2019
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel <i>SLC19A3</i> Mutation and Review of the LiteratureSalvatore Savasta, Francesco Bassanese, Chiara Buschini, et al.
Journal of Neurogenetics|April 6, 2021
De novo mutation in <i>SLC25A22</i> gene: expansion of the clinical and electroencephalographic phenotypeAntonio Gennaro Nicotera, Daniela Dicanio, Erica Pironti, et al.
Molecular Syndromology|November 13, 2025
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33Busra Aynekin, Bahadır M Samur, Ummu Gulsum Ozgul Gumus, et al.
Neurogenetics|January 24, 2025
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two familiesBusra Aynekin, Sinan Akbaş, Ayten Gulec, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|May 15, 2023
Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani familyWahid Ullah, Muhammad Ilyas, Muhammad Tariq, et al.
Brain & Development|August 26, 2023
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overviewGreta Amore, Elisa Calì, Maria Spanò, et al.
Gene|December 31, 2023
Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disordersTipu Sultan, Giovanna Scorrano, Marta Panciroli, et al.
Journal of the Neurological Sciences|February 2, 2020
Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegiaFarah Bibi, Stephanie Efthymiou, Thomas Bourinaris, et al.
Epilepsia|April 26, 2021
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel functionMarcello Scala, Stephanie Efthymiou, Tipu Sultan, et al.
Neurogenetics|August 11, 2025
Whole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun familyHayat Khan, Muhammad Ilyas, Hina Qasim, et al.
Pageof 18

Showing results (21-30 of 176) with videos related to

Sort By:
Pageof 18
Journal of Pediatric Genetics|May 8, 2019
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel <i>SLC19A3</i> Mutation and Review of the LiteratureSalvatore Savasta, Francesco Bassanese, Chiara Buschini, et al.
Journal of Neurogenetics|April 6, 2021
De novo mutation in <i>SLC25A22</i> gene: expansion of the clinical and electroencephalographic phenotypeAntonio Gennaro Nicotera, Daniela Dicanio, Erica Pironti, et al.
Molecular Syndromology|November 13, 2025
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33Busra Aynekin, Bahadır M Samur, Ummu Gulsum Ozgul Gumus, et al.
Neurogenetics|January 24, 2025
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two familiesBusra Aynekin, Sinan Akbaş, Ayten Gulec, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|May 15, 2023
Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani familyWahid Ullah, Muhammad Ilyas, Muhammad Tariq, et al.
Brain & Development|August 26, 2023
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overviewGreta Amore, Elisa Calì, Maria Spanò, et al.
Gene|December 31, 2023
Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disordersTipu Sultan, Giovanna Scorrano, Marta Panciroli, et al.
Journal of the Neurological Sciences|February 2, 2020
Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegiaFarah Bibi, Stephanie Efthymiou, Thomas Bourinaris, et al.
Epilepsia|April 26, 2021
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel functionMarcello Scala, Stephanie Efthymiou, Tipu Sultan, et al.
Neurogenetics|August 11, 2025
Whole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun familyHayat Khan, Muhammad Ilyas, Hina Qasim, et al.
Pageof 18