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Stephanie Efthymiou

Showing results (1-10 of 176) with videos related to

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Current Opinion in Neurology|September 3, 2016
Next-generation sequencing in neuromuscular diseasesStephanie Efthymiou, Andreea Manole, Henry Houlden
Journal of Pediatric Genetics|August 15, 2018
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in <i>KAT6A</i>Stephanie Efthymiou, Vincenzo Salpietro, Conceicao Bettencourt, et al.
F1000Research|January 28, 2020
The genetics of intellectual disability: advancing technology and gene editingMuhammad Ilyas, Asif Mir, Stephanie Efthymiou, et al.
Current Genomics|September 28, 2018
A Review of Copy Number Variants in Inherited NeuropathiesVincenzo Salpietro, Andreea Manole, Stephanie Efthymiou, et al.
European Journal of Human Genetics : EJHG|April 7, 2021
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disordersThomas Bourinaris, Alkyoni Athanasiou, Stephanie Efthymiou, et al.
Molecular Biology Reports|January 4, 2025
Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome)Hadiba Bibi, Riaz Ahmad, Fatima Rahman, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|February 8, 2020
Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variantsRosaria Nardello, Antonina Fontana, Giuseppe Donato Mangano, et al.
Journal of Genetics|December 11, 2019
A <i>de novo</i> truncating mutation in <i>ASXL1</i> associated with segmental overgrowthStephanie Efthymiou, Vincenzo Salpietro, Erica Pironti, et al.
Neurogenetics|December 2, 2025
L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatmentBeyza Karataş, Ayten Güleç, Ömer YiğitSezer, et al.
BMC Medical Genetics|March 27, 2020
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous familiesMuhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, et al.
Pageof 18

Showing results (1-10 of 176) with videos related to

Sort By:
Pageof 18
Current Opinion in Neurology|September 3, 2016
Next-generation sequencing in neuromuscular diseasesStephanie Efthymiou, Andreea Manole, Henry Houlden
Journal of Pediatric Genetics|August 15, 2018
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in <i>KAT6A</i>Stephanie Efthymiou, Vincenzo Salpietro, Conceicao Bettencourt, et al.
F1000Research|January 28, 2020
The genetics of intellectual disability: advancing technology and gene editingMuhammad Ilyas, Asif Mir, Stephanie Efthymiou, et al.
Current Genomics|September 28, 2018
A Review of Copy Number Variants in Inherited NeuropathiesVincenzo Salpietro, Andreea Manole, Stephanie Efthymiou, et al.
European Journal of Human Genetics : EJHG|April 7, 2021
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disordersThomas Bourinaris, Alkyoni Athanasiou, Stephanie Efthymiou, et al.
Molecular Biology Reports|January 4, 2025
Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome)Hadiba Bibi, Riaz Ahmad, Fatima Rahman, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|February 8, 2020
Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variantsRosaria Nardello, Antonina Fontana, Giuseppe Donato Mangano, et al.
Journal of Genetics|December 11, 2019
A <i>de novo</i> truncating mutation in <i>ASXL1</i> associated with segmental overgrowthStephanie Efthymiou, Vincenzo Salpietro, Erica Pironti, et al.
Neurogenetics|December 2, 2025
L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatmentBeyza Karataş, Ayten Güleç, Ömer YiğitSezer, et al.
BMC Medical Genetics|March 27, 2020
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous familiesMuhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, et al.
Pageof 18