Angelisa Frasca

1PUBLICATIONS
8CO-AUTHORS
Developmental genetics (incl. sex determination)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (1)

Sort by Publication Date:
|Mar 14, 2022
Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution.

Angelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto

Pageof 1

Frequent Collaborators

1 joint publications

Efterpi Pavlidou

1 joint publications

Matteo Bizzotto

1 joint publications

Yunan Gao

1 joint publications

Dario Balestra

1 joint publications

Mirko Pinotti

1 joint publications

Nicholas D Mazarakis

1 joint publications

Nicoletta Landsberger

1 joint publications

Maria Kinali

Frequent Collaborators

1 joint publications

Efterpi Pavlidou

1 joint publications

Matteo Bizzotto

1 joint publications

Yunan Gao

1 joint publications

Dario Balestra

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
Jove
Visualize
Contact Us

Top Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on : Aug 08, 2022

3.8K
See more related videos

Top Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on : Aug 08, 2022

3.8K
See more related videos