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

Heba Morsy

7PUBLICATIONS
168CO-AUTHORS
Regenerative medicine (incl. stem cells)Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesGene mappingMajor global burdens of disease
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (7)

Sort by Publication Date:
|Jan 06, 2026
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Vicente A Yépez, German Demidov, Kornelia Ellwanger

|Sep 09, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Vicente A Yépez, German Demidov, Kornelia Ellwanger

|Feb 26, 2025
Rare disease gene association discovery in the 100,000 Genomes Project.

Valentina Cipriani, Letizia Vestito, Emma F Magavern

|Jun 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Mehdi Benkirane, Marion Bonhomme, Heba Morsy

|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Wouter Steyaert, Lydia Sagath, German Demidov

|Mar 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Viorica Chelban, Henriette Aksnes, Reza Maroofian

Pageof 2

Frequent Collaborators

4 joint publications

Henry Houlden

3 joint publications

Anna Esteve-Codina

3 joint publications

William Macken

3 joint publications

Kornelia Ellwanger

3 joint publications

Julien Gagneur

3 joint publications

Vicente A Yépez

3 joint publications

German Demidov

3 joint publications

Liedewei Van de Vondel

3 joint publications

Rita Horvath

3 joint publications

Kornelia Neveling

Frequent Collaborators

4 joint publications

Henry Houlden

3 joint publications

Anna Esteve-Codina

3 joint publications

William Macken

3 joint publications

Kornelia Ellwanger

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

14.2K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on : Aug 21, 2016

12.9K
See more related videos

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

14.2K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on : Aug 21, 2016

12.9K
See more related videos