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

R Mulligan

Showing results (111-120 of 114) with videos related to

Pageof 12
Sort By:
You have reached the last page of results.This site can display upto 114 results.
European Journal of Human Genetics : EJHG|March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approachesSilvestre Cuinat, Nicolas Chatron, Florence Petit, et al.
Human Genetics|May 6, 2026
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
A novel splice site variant in <i>DEGS1</i> leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
American Journal of Human Genetics|May 30, 2024
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignatureRemzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, et al.
Pageof 12

Showing results (111-120 of 114) with videos related to

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 114 results.
European Journal of Human Genetics : EJHG|March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approachesSilvestre Cuinat, Nicolas Chatron, Florence Petit, et al.
Human Genetics|May 6, 2026
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
A novel splice site variant in <i>DEGS1</i> leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
American Journal of Human Genetics|May 30, 2024
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignatureRemzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, et al.
Pageof 12