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

Chitra Prasad

2PUBLICATIONS

11CO-AUTHORS

Historical, comparative and typological linguisticsNeurogenetics

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (2)

Sort by Publication Date:

|Jan 19, 2026

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series.

Samuel Quinn Tholl, Wendy McCaul, Anthony Rupar

|May 20, 2016

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

Chelsea Lowther, Marsha Speevak, Christine M Armour

Pageof 1

Frequent Collaborators

1 joint publications

Chelsea Lowther

1 joint publications

Lee-Anne Schultz

1 joint publications

Antonella Morra

1 joint publications

Rob Nicolson

1 joint publications

Jack H Jung

1 joint publications

Sharan Goobie

1 joint publications

Mark A Tarnopolsky

1 joint publications

Margreet Walinga

1 joint publications

Renske G Reijenga

1 joint publications

Anne S Bassett

Frequent Collaborators

1 joint publications

Chelsea Lowther

1 joint publications

Lee-Anne Schultz

1 joint publications

Antonella Morra

1 joint publications

Rob Nicolson

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

Investigation of the Transcriptional Role of a <em>RUNX1</em> Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells

Investigation of the Transcriptional Role of a <em>RUNX1</em> Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells

Published on : Sep 01, 2019

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

Investigation of the Transcriptional Role of a <em>RUNX1</em> Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells

Investigation of the Transcriptional Role of a <em>RUNX1</em> Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells

Published on : Sep 01, 2019

See more related videos