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

Bonnie Sullivan

3PUBLICATIONS

31CO-AUTHORS

Biomechanical engineeringEpidemiological modellingToxicology (incl. clinical toxicology)

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (3)

Sort by Publication Date:

|Nov 06, 2024

Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Carolyn Le, Emanuela Argilli, Elizabeth George

|Feb 06, 2021

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Víctor Faundes, Martin D Jennings, Siobhan Crilly

|Aug 29, 2020

MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome.

K W Martin, N Weaver, K Alhasan

Pageof 1

Frequent Collaborators

1 joint publications

K W Martin

1 joint publications

N Weaver

1 joint publications

K Alhasan

1 joint publications

E Gumus

1 joint publications

M Zenker

1 joint publications

F Hildebrandt

1 joint publications

J D Saba

1 joint publications

Víctor Faundes

1 joint publications

Martin D Jennings

1 joint publications

Siobhan Crilly

Frequent Collaborators

1 joint publications

K W Martin

1 joint publications

N Weaver

1 joint publications

K Alhasan

1 joint publications

E Gumus

Top Related Videos

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

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

Published on : Aug 20, 2019

<em>Xenopus laevis</em> as a Model to Identify Translation Impairment

<em>Xenopus laevis</em> as a Model to Identify Translation Impairment

Published on : Sep 27, 2015

A Pipeline to Investigate the Structures and Signaling Pathways of Sphingosine 1-Phosphate Receptors

A Pipeline to Investigate the Structures and Signaling Pathways of Sphingosine 1-Phosphate Receptors

Published on : Jun 08, 2022

See more related videos

Top Related Videos

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

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

Published on : Aug 20, 2019

<em>Xenopus laevis</em> as a Model to Identify Translation Impairment

<em>Xenopus laevis</em> as a Model to Identify Translation Impairment

Published on : Sep 27, 2015

A Pipeline to Investigate the Structures and Signaling Pathways of Sphingosine 1-Phosphate Receptors

A Pipeline to Investigate the Structures and Signaling Pathways of Sphingosine 1-Phosphate Receptors

Published on : Jun 08, 2022

See more related videos