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Stephanie Efthymiou

Showing results (71-80 of 176) with videos related to

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Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.
European Journal of Human Genetics : EJHG|April 25, 2024
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern IndiaVenugopalan Y Vishnu, Richard J L F Lemmers, Alisha Reyaz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 1, 2025
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and IchthyosisKeit Men Wong, Reza Maroofian, Kolja Meier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2024
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disordersCamila Armirola-Ricaurte, Noortje Zonnekein, Georgios Koutsis, et al.
Annals of Neurology|March 11, 2021
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological DiseasesOlivia V Poole, Chiara Pizzamiglio, David Murphy, et al.
Neurology. Genetics|March 27, 2020
<i>MYORG</i>-related disease is associated with central pontine calcifications and atypical parkinsonismViorica Chelban, Miryam Carecchio, Gillian Rea, et al.
Biomolecules|November 25, 2023
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and ChallengesStephanie Efthymiou, Richard J L F Lemmers, Venugopalan Y Vishnu, et al.
Brain Communications|April 2, 2026
Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-associated mitochondrial diseaseAlessandra Torraco, Charlotte L Alston, Giulia Barcia, et al.
Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated K<sub>V</sub> 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
European Journal of Neurology|November 21, 2020
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathiesZhongbo Chen, Reza Maroofian, A Nazlı Başak, et al.
Pageof 18

Showing results (71-80 of 176) with videos related to

Sort By:
Pageof 18
Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.
European Journal of Human Genetics : EJHG|April 25, 2024
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern IndiaVenugopalan Y Vishnu, Richard J L F Lemmers, Alisha Reyaz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 1, 2025
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and IchthyosisKeit Men Wong, Reza Maroofian, Kolja Meier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2024
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disordersCamila Armirola-Ricaurte, Noortje Zonnekein, Georgios Koutsis, et al.
Annals of Neurology|March 11, 2021
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological DiseasesOlivia V Poole, Chiara Pizzamiglio, David Murphy, et al.
Neurology. Genetics|March 27, 2020
<i>MYORG</i>-related disease is associated with central pontine calcifications and atypical parkinsonismViorica Chelban, Miryam Carecchio, Gillian Rea, et al.
Biomolecules|November 25, 2023
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and ChallengesStephanie Efthymiou, Richard J L F Lemmers, Venugopalan Y Vishnu, et al.
Brain Communications|April 2, 2026
Neurological manifestations and genotype-phenotype correlations in <i>NDUFAF6</i>-associated mitochondrial diseaseAlessandra Torraco, Charlotte L Alston, Giulia Barcia, et al.
Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated K<sub>V</sub> 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
European Journal of Neurology|November 21, 2020
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathiesZhongbo Chen, Reza Maroofian, A Nazlı Başak, et al.
Pageof 18