0
Skip to Content
Home
About ReNU
Research
Testing
Resources
Therapies
Unique ReNU Guide
ReNU Clinical Companion
Donate
Corporate Giving
Map Registry
Newly Diagnosed
Photo Gallery
Newsletters
Fundraising
Events
Shop
RNUopathies
RNU2-2 / ReNU2
Scientific Publications
Articles
Podcasts
Blogs
Videos
Mission
Global Advisors
2025 Conference
Volunteer with RSU
Translate
RNU4-2 / ReNU Syndrome
DONATE
Home
About ReNU
Research
Testing
Resources
Therapies
Unique ReNU Guide
ReNU Clinical Companion
Donate
Corporate Giving
Map Registry
Newly Diagnosed
Photo Gallery
Newsletters
Fundraising
Events
Shop
RNUopathies
RNU2-2 / ReNU2
Scientific Publications
Articles
Podcasts
Blogs
Videos
Mission
Global Advisors
2025 Conference
Volunteer with RSU
Translate
RNU4-2 / ReNU Syndrome
DONATE
Home
Folder: About ReNU
Back
About ReNU
Research
Testing
Resources
Therapies
Unique ReNU Guide
ReNU Clinical Companion
Folder: Donations
Back
Donate
Corporate Giving
Map Registry
Folder: Community
Back
Newly Diagnosed
Photo Gallery
Newsletters
Fundraising
Events
Shop
RNUopathies
RNU2-2 / ReNU2
Folder: Media
Back
Scientific Publications
Articles
Podcasts
Blogs
Videos
Folder: ReNU Syndrome United
Back
Mission
Global Advisors
2025 Conference
Volunteer with RSU
Translate
DONATE
  • Research,
• 11/4/24

De Novo Variants in snRNA RNU4-2 Cause a Frequent Neurodevelopmental Syndrome — Prof Nicola Whiffin

Previous

Rare-X Registry - Official Launch (English)

Next

IEU Seminar: Andrew Mumford and Daniel Greene

You Might Also Like

Related Embedded Video Item Thumbnail Dr Sarah Wynn - How the discovery of ReNU syndrome is impacting patients and families
Related Video Item Thumbnail Global Community
Related Embedded Video Item Thumbnail MSS 2025 Day 1 Nicola Whiffin
Related Video Item Thumbnail We Belong Together
Related Video Item Thumbnail Our Diagnostic Odysseys

About | Contact | Privacy Policy
 | Terms & Conditions | Tax Deductible Donation | Financials

© 2026 ReNU Syndrome United

ReNU Syndrome United is a registered 501(c)(3) charity | EIN: 33-1264597

ReNUsyndrome.org is strictly an informational website and does not provide medical advice, diagnosis or treatment. The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a physician or other qualified healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

References: Please see Articles posted on the Media page.