Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Emily Fleming

1PUBLICATIONS

20CO-AUTHORS

Genome structure and regulation

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (1)

Sort by Publication Date:

|Dec 21, 2023

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf

Pageof 1

Frequent Collaborators

1 joint publications

Raffaella De Pace

1 joint publications

Reza Maroofian

1 joint publications

Mina Zamani

1 joint publications

Maha S Zaki

1 joint publications

Saeid Sadeghian

1 joint publications

Reza Azizimalamiri

1 joint publications

Hamid Galehdari

1 joint publications

Jawaher Zeighami

1 joint publications

Chad D Williamson

1 joint publications

Dihong Zhou

Frequent Collaborators

1 joint publications

Raffaella De Pace

1 joint publications

Reza Maroofian

1 joint publications

Mina Zamani

1 joint publications

Maha S Zaki

Top Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

See more related videos

Top Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

See more related videos