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

Andriy Shatillo

1PUBLICATIONS

19CO-AUTHORS

Neurology and neuromuscular diseases

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (1)

Sort by Publication Date:

|Apr 28, 2022

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.

Hong Joo Kim, Payam Mohassel, Sandra Donkervoort

Pageof 1

Frequent Collaborators

1 joint publications

Hong Joo Kim

1 joint publications

Payam Mohassel

1 joint publications

Charlotte M Fare

1 joint publications

Aritoshi Iida

1 joint publications

Rebecca Buchert

1 joint publications

Thomas E Lloyd

1 joint publications

Emmanuelle Fleurence

1 joint publications

Sarah Ennis

1 joint publications

Rosanna Upstill-Goddard

1 joint publications

Luca Bello

Frequent Collaborators

1 joint publications

Hong Joo Kim

1 joint publications

Payam Mohassel

1 joint publications

Charlotte M Fare

1 joint publications

Aritoshi Iida

Top Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

See more related videos

Top Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

See more related videos