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

Jason R Pinner

3PUBLICATIONS

62CO-AUTHORS

Infant and child healthNeurogenetics

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (3)

Sort by Publication Date:

|May 04, 2026

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

|Jan 24, 2025

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Sandra Coppens, Nicolas Deconinck, Patricia Sullivan

|May 07, 2021

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.

S K Goergen, E Alibrahim, J Christie

Pageof 1

Frequent Collaborators

2 joint publications

Michael Fahey

2 joint publications

Sarah A Sandaradura

1 joint publications

S K Goergen

1 joint publications

E Alibrahim

1 joint publications

J Christie

1 joint publications

A Dobrotwir

1 joint publications

L Fender

1 joint publications

K Frawley

1 joint publications

S A Manikkam

1 joint publications

S Sinnott

Frequent Collaborators

2 joint publications

Michael Fahey

2 joint publications

Sarah A Sandaradura

1 joint publications

S K Goergen

1 joint publications

E Alibrahim

Top Related Videos

Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice

Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice

Published on : Jun 11, 2020

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on : Jul 15, 2014

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

See more related videos

Top Related Videos

Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice

Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice

Published on : Jun 11, 2020

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on : Jul 15, 2014

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

See more related videos