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

Anita Nikoncuk

Showing results (1-10 of 9) with videos related to

Pageof 1
Sort By:
Genome Medicine|October 19, 2021
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevanceSoheil Yousefi, Ruizhi Deng, Kristina Lanko, et al.
Iscience|April 23, 2026
ISGylation is disrupted by <i>UBA7</i> gene variants identified in individuals with neurodevelopmental disorder phenotypesVenkateshwarlu Bandi, Myrrhe Venema, Iona Wallace, et al.
Cell|November 20, 2025
BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variantsRuizhi Deng, Elena Perenthaler, Anita Nikoncuk, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 7, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site VariantsAna Westenberger, Edgard Verdura, Mandy Radefeldt, et al.
American Journal of Human Genetics|November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model OrganismsScott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
Acta Neuropathologica|April 29, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelRuizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
Brain : a Journal of Neurology|March 25, 2021
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingLeslie E Sanderson, Kristina Lanko, Maysoon Alsagob, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SETYuwei Shi, Ananilia Silva, Christophe Debuy, et al.
Acta Neuropathologica|December 11, 2019
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Anita Nikoncuk, Soheil Yousefi, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Genome Medicine|October 19, 2021
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevanceSoheil Yousefi, Ruizhi Deng, Kristina Lanko, et al.
Iscience|April 23, 2026
ISGylation is disrupted by <i>UBA7</i> gene variants identified in individuals with neurodevelopmental disorder phenotypesVenkateshwarlu Bandi, Myrrhe Venema, Iona Wallace, et al.
Cell|November 20, 2025
BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variantsRuizhi Deng, Elena Perenthaler, Anita Nikoncuk, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 7, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site VariantsAna Westenberger, Edgard Verdura, Mandy Radefeldt, et al.
American Journal of Human Genetics|November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model OrganismsScott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
Acta Neuropathologica|April 29, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelRuizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, et al.
Brain : a Journal of Neurology|March 25, 2021
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingLeslie E Sanderson, Kristina Lanko, Maysoon Alsagob, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SETYuwei Shi, Ananilia Silva, Christophe Debuy, et al.
Acta Neuropathologica|December 11, 2019
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Anita Nikoncuk, Soheil Yousefi, et al.
Pageof 1