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Stephanie Efthymiou

Showing results (81-90 of 176) with videos related to

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Biochimica Et Biophysica Acta. Molecular Basis of Disease|February 11, 2026
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndromeBusra Aynekin, Tracy Lau, Rauan Kaiyrzhanov, et al.
Brain : a Journal of Neurology|June 2, 2025
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathwayYoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, et al.
Frontiers in Neuroscience|November 5, 2019
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to <i>MTMR2</i> Mutations and Implications in Membrane TraffickingHaicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, et al.
Clinical Genetics|February 15, 2024
Expanding the phenotype of PPP1R21-related neurodevelopmental disorderMohammed Almannai, Dana Marafi, Maha S Zaki, et al.
Ebiomedicine|May 10, 2025
SLK is mutated in individuals with a neurodevelopmental disorderLama Alabdi, Norah Altuwaijri, Jun-Yi Zhu, et al.
Medrxiv : the Preprint Server for Health Sciences|November 6, 2024
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalitiesCarolyn Le, Emanuela Argilli, Elizabeth George, et al.
Frontiers in Molecular Neuroscience|March 18, 2024
Human mutations in <i>SLITRK3</i> implicated in GABAergic synapse development in miceStephanie Efthymiou, Wenyan Han, Muhammad Ilyas, et al.
Nature Genetics|March 31, 2019
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.
Journal of Medical Genetics|November 11, 2020
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndromePasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2023
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorderLisa Pavinato, Jennifer Stanic, Marta Barzasi, et al.
Pageof 18

Showing results (81-90 of 176) with videos related to

Sort By:
Pageof 18
Biochimica Et Biophysica Acta. Molecular Basis of Disease|February 11, 2026
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndromeBusra Aynekin, Tracy Lau, Rauan Kaiyrzhanov, et al.
Brain : a Journal of Neurology|June 2, 2025
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathwayYoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, et al.
Frontiers in Neuroscience|November 5, 2019
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to <i>MTMR2</i> Mutations and Implications in Membrane TraffickingHaicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, et al.
Clinical Genetics|February 15, 2024
Expanding the phenotype of PPP1R21-related neurodevelopmental disorderMohammed Almannai, Dana Marafi, Maha S Zaki, et al.
Ebiomedicine|May 10, 2025
SLK is mutated in individuals with a neurodevelopmental disorderLama Alabdi, Norah Altuwaijri, Jun-Yi Zhu, et al.
Medrxiv : the Preprint Server for Health Sciences|November 6, 2024
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalitiesCarolyn Le, Emanuela Argilli, Elizabeth George, et al.
Frontiers in Molecular Neuroscience|March 18, 2024
Human mutations in <i>SLITRK3</i> implicated in GABAergic synapse development in miceStephanie Efthymiou, Wenyan Han, Muhammad Ilyas, et al.
Nature Genetics|March 31, 2019
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.
Journal of Medical Genetics|November 11, 2020
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndromePasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2023
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorderLisa Pavinato, Jennifer Stanic, Marta Barzasi, et al.
Pageof 18