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

Stephanie Weissgraeber

1PUBLICATIONS

4CO-AUTHORS

Neurogenetics

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 12, 2022

Pathogenic REST variant causing Jones syndrome and a review of the literature.

Elisa Rahikkala, Johanna Julku, Sari Koskinen

Pageof 1

Frequent Collaborators

1 joint publications

Elisa Rahikkala

1 joint publications

Johanna Julku

1 joint publications

Aida M Bertoli-Avella

1 joint publications

Minna Kraatari-Tiri

Frequent Collaborators

1 joint publications

Elisa Rahikkala

1 joint publications

Johanna Julku

1 joint publications

Aida M Bertoli-Avella

1 joint publications

Minna Kraatari-Tiri

Top Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

See more related videos

Top Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

See more related videos