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

Karit Reinson

Showing results (21-30 of 35) with videos related to

Pageof 4
Sort By:
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
The Journal of Clinical Investigation|February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystoniaNiccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.
Science Advances|February 17, 2023
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sitesNicola de Prisco, Caitlin Ford, Nathan D Elrod, et al.
HGG Advances|June 26, 2026
Expanding the ABCA2-associated neurodevelopmental phenotypeKaisa T Oja, Karit Reinson, Mihkel Ilisson, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
HGG Advances|November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorderLot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.
American Journal of Human Genetics|April 5, 2026
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
American Journal of Human Genetics|August 27, 2019
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature AgingElisabetta Flex, Simone Martinelli, Anke Van Dijck, et al.
Medrxiv : the Preprint Server for Health Sciences|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
The Journal of Clinical Investigation|February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystoniaNiccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.
Science Advances|February 17, 2023
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sitesNicola de Prisco, Caitlin Ford, Nathan D Elrod, et al.
HGG Advances|June 26, 2026
Expanding the ABCA2-associated neurodevelopmental phenotypeKaisa T Oja, Karit Reinson, Mihkel Ilisson, et al.
Epilepsia|April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
HGG Advances|November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorderLot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.
American Journal of Human Genetics|April 5, 2026
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
American Journal of Human Genetics|August 27, 2019
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature AgingElisabetta Flex, Simone Martinelli, Anke Van Dijck, et al.
Medrxiv : the Preprint Server for Health Sciences|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Pageof 4