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Reza Maroofian

Showing results (71-80 of 276) with videos related to

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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.
Human Molecular Genetics|February 5, 2019
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24Carola Hedberg-Oldfors, Alexandra Abramsson, Daniel P S Osborn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2022
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalitiesElla F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, 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.
Annals of Clinical and Translational Neurology|July 23, 2022
GGPS1-associated muscular dystrophy with and without hearing lossRauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, et al.
Brain : a Journal of Neurology|September 18, 2024
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defectsElizabeth A Werren, Guillermo Rodriguez Bey, Purvi Majethia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapyFrancisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
Annals of Clinical and Translational Neurology|June 10, 2022
Biallelic loss of EMC10 leads to mild to severe intellectual disabilityRauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, 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.
Journal of Neuromuscular Diseases|March 29, 2026
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophyStephany El-Hayek, Aboulfazl Rad, Sahar Sedighzadeh, et al.
Pageof 28

Showing results (71-80 of 276) with videos related to

Sort By:
Pageof 28
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.
Human Molecular Genetics|February 5, 2019
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24Carola Hedberg-Oldfors, Alexandra Abramsson, Daniel P S Osborn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2022
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalitiesElla F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, 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.
Annals of Clinical and Translational Neurology|July 23, 2022
GGPS1-associated muscular dystrophy with and without hearing lossRauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, et al.
Brain : a Journal of Neurology|September 18, 2024
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defectsElizabeth A Werren, Guillermo Rodriguez Bey, Purvi Majethia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapyFrancisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
Annals of Clinical and Translational Neurology|June 10, 2022
Biallelic loss of EMC10 leads to mild to severe intellectual disabilityRauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, 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.
Journal of Neuromuscular Diseases|March 29, 2026
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophyStephany El-Hayek, Aboulfazl Rad, Sahar Sedighzadeh, et al.
Pageof 28