Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Reza Maroofian

Showing results (41-50 of 276) with videos related to

Pageof 28
Sort By:
Science Advances|July 1, 2026
Turbocharging synaptic transmission: 12 SNAREpins are required for rapid release of reconstituted synaptic vesiclesManindra Bera, Atrouli Chatterjee, Amit Koikkarah Aji, et al.
European Journal of Human Genetics : EJHG|November 10, 2020
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1Bart Appelhof, Matias Wagner, Julia Hoefele, et al.
European Journal of Human Genetics : EJHG|June 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric featuresMaha S Zaki, Andrea Accogli, Ghayda Mirzaa, et al.
European Journal of Human Genetics : EJHG|June 30, 2016
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorderMaria M Alves, Danny Halim, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2020
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3Daniel Peter Sayer Osborn, Leila Emrahi, Joshua Clayton, et al.
Annals of Clinical and Translational Neurology|August 9, 2023
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202AsnStephanie Efthymiou, Luiz E Novis, Georgios Koutsis, et al.
Cell Reports|January 9, 2025
Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAsKejia Zhang, Aidan C Manning, Jenna M Lentini, et al.
Clinical Genetics|November 24, 2025
The Genetic Landscape of Hereditary Spastic Paraplegia in GreeceGeorgios Koutsis, Viorica Chelban, Chrisoula Kartanou, et al.
Brain : a Journal of Neurology|April 12, 2026
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathiesGülsüm Kayhan, Ryosuke Tany, Reza Maroofian, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 8, 2025
RRP12 Variants Are Associated With Autosomal Recessive Brain CalcificationsEdoardo Monfrini, Paola Rinchetti, Mathieu Anheim, et al.
Pageof 28

Showing results (41-50 of 276) with videos related to

Sort By:
Pageof 28
Science Advances|July 1, 2026
Turbocharging synaptic transmission: 12 SNAREpins are required for rapid release of reconstituted synaptic vesiclesManindra Bera, Atrouli Chatterjee, Amit Koikkarah Aji, et al.
European Journal of Human Genetics : EJHG|November 10, 2020
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1Bart Appelhof, Matias Wagner, Julia Hoefele, et al.
European Journal of Human Genetics : EJHG|June 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric featuresMaha S Zaki, Andrea Accogli, Ghayda Mirzaa, et al.
European Journal of Human Genetics : EJHG|June 30, 2016
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorderMaria M Alves, Danny Halim, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2020
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3Daniel Peter Sayer Osborn, Leila Emrahi, Joshua Clayton, et al.
Annals of Clinical and Translational Neurology|August 9, 2023
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202AsnStephanie Efthymiou, Luiz E Novis, Georgios Koutsis, et al.
Cell Reports|January 9, 2025
Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAsKejia Zhang, Aidan C Manning, Jenna M Lentini, et al.
Clinical Genetics|November 24, 2025
The Genetic Landscape of Hereditary Spastic Paraplegia in GreeceGeorgios Koutsis, Viorica Chelban, Chrisoula Kartanou, et al.
Brain : a Journal of Neurology|April 12, 2026
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathiesGülsüm Kayhan, Ryosuke Tany, Reza Maroofian, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 8, 2025
RRP12 Variants Are Associated With Autosomal Recessive Brain CalcificationsEdoardo Monfrini, Paola Rinchetti, Mathieu Anheim, et al.
Pageof 28