Search :

Contact Members area

About Us
For Clinicians
For Patients and Families
Documentation
News
Events

About Us
For Clinicians
For Patients and Families
Documentation
News
Events

Members area Contact

Home > For Clinicians > List Of Publications > Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Post navigation

A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

Subscribe to ERN-ITHACA's newsletter

Rechercher :

ERN ITHACA is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit http://ec.europa.eu/ health/ern

Disclaimer: The content on this website represents the views of the network and is its sole responsibility; it can in no way be taken to reflect the views of the European Commission or any other body of the European Union.

ITHACA logo was created by George Quiney and Angelina Bauder

Legal Notice Privacy policy Sitemap