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

Giulia Del Gobbo

Showing results (1-10 of 6) with videos related to

Pageof 1
Sort By:
Placenta|January 16, 2019
Considerations when processing and interpreting genomics data of the placentaChaini Konwar, Giulia Del Gobbo, Victor Yuan, et al.
Epigenetics & Chromatin|August 11, 2019
Accurate ethnicity prediction from placental DNA methylation dataVictor Yuan, E Magda Price, Giulia Del Gobbo, et al.
Ebiomedicine|March 20, 2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment responseDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locusDavid Pellerin, Giulia Del Gobbo, Madeline Couse, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Placenta|January 16, 2019
Considerations when processing and interpreting genomics data of the placentaChaini Konwar, Giulia Del Gobbo, Victor Yuan, et al.
Epigenetics & Chromatin|August 11, 2019
Accurate ethnicity prediction from placental DNA methylation dataVictor Yuan, E Magda Price, Giulia Del Gobbo, et al.
Ebiomedicine|March 20, 2024
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohortDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment responseDavid Pellerin, Felix Heindl, Carlo Wilke, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2023
A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locusDavid Pellerin, Giulia Del Gobbo, Madeline Couse, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
Pageof 1