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Reza Maroofian

Showing results (21-30 of 276) with videos related to

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Scientific Reports|June 23, 2019
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathyEdward G Jones, Neda Mazaheri, Reza Maroofian, et al.
Iranian Journal of Public Health|December 14, 2016
A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case ReportMasoud Dehghan Tezerjani, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, et al.
Neuromuscular Disorders : NMD|June 12, 2020
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolismNatalie Keller, Natalia Mendoza-Ferreira, Reza Maroofian, et al.
Cell Reports|June 7, 2025
Combinatorial transcriptional regulation establishes subtype-appropriate synaptic properties in auditory neuronsIsle Bastille, Lucy Lee, Cynthia Moncada-Reid, et al.
Pediatric Neurology|August 30, 2025
Case Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca<sup>2+</sup> and K<sup>+</sup> Channel Dynamics and Experience With Pallidal Deep Brain StimulationLaia Nou-Fontanet, Jiraporn Ousingsawat, Majid Aziz, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphismFatima Rahman, Luisa Marsili, Domizia Pasquetti, et al.
Clinical Genetics|November 6, 2020
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestationsCamille Tremblay-Laganière, Rauan Kaiyrzhanov, Reza Maroofian, et al.
Journal of Medical Genetics|December 29, 2022
Consolidating the association of biallelic <i>MAPKAPK5</i> pathogenic variants with a distinct syndromic neurodevelopmental disorderReza Maroofian, Stephanie Efthymiou, Mohnish Suri, et al.
Journal of Molecular Neuroscience : MN|October 4, 2024
Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related DystrophyWessam E Sharaf-Eldin, Karima Rafat, Mahmoud Y Issa, et al.
Journal of Medical Genetics|July 29, 2020
Biallelic variants in <i>ADARB1</i>, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathyReza Maroofian, Jiří Sedmík, Neda Mazaheri, et al.
Pageof 28

Showing results (21-30 of 276) with videos related to

Sort By:
Pageof 28
Scientific Reports|June 23, 2019
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathyEdward G Jones, Neda Mazaheri, Reza Maroofian, et al.
Iranian Journal of Public Health|December 14, 2016
A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case ReportMasoud Dehghan Tezerjani, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, et al.
Neuromuscular Disorders : NMD|June 12, 2020
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolismNatalie Keller, Natalia Mendoza-Ferreira, Reza Maroofian, et al.
Cell Reports|June 7, 2025
Combinatorial transcriptional regulation establishes subtype-appropriate synaptic properties in auditory neuronsIsle Bastille, Lucy Lee, Cynthia Moncada-Reid, et al.
Pediatric Neurology|August 30, 2025
Case Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca<sup>2+</sup> and K<sup>+</sup> Channel Dynamics and Experience With Pallidal Deep Brain StimulationLaia Nou-Fontanet, Jiraporn Ousingsawat, Majid Aziz, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphismFatima Rahman, Luisa Marsili, Domizia Pasquetti, et al.
Clinical Genetics|November 6, 2020
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestationsCamille Tremblay-Laganière, Rauan Kaiyrzhanov, Reza Maroofian, et al.
Journal of Medical Genetics|December 29, 2022
Consolidating the association of biallelic <i>MAPKAPK5</i> pathogenic variants with a distinct syndromic neurodevelopmental disorderReza Maroofian, Stephanie Efthymiou, Mohnish Suri, et al.
Journal of Molecular Neuroscience : MN|October 4, 2024
Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related DystrophyWessam E Sharaf-Eldin, Karima Rafat, Mahmoud Y Issa, et al.
Journal of Medical Genetics|July 29, 2020
Biallelic variants in <i>ADARB1</i>, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathyReza Maroofian, Jiří Sedmík, Neda Mazaheri, et al.
Pageof 28