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Interaction with Other European Initiatives
For Clinicians
How ERN-ITHACA Helps Health Professionals?
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Expert Centers
List of Publications
How to Cite ERN-ITHACA in Your Publications?
ILIAD
CPMS
For Patients and Families
How ERN-ITHACA Supports Patients and Families?
ERN-ITHACA Patients Representatives
Find an Expert Center
Patients Documentation
Documentation
Educational Resources
Online Genetics Course APOGeE
Guidelines
Phelan-McDermid Guideline
Orphanet Updates
SysNDD
News
Events
Past Events
Upcoming Events
EuroNDD 2023
EuroDysmorpho 2023
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Calls for Collaboration
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Newest
A-Z (Gene/Syndrom)
Deadline date
Download here the template
to submit your call by email to
the coordination team
CHAMP1 clinical spectrum (MRD40 – OMIM 616579)
Phenotypic delineation of patients with bi-allelic CDK10 mutations (Al Kaissi syndrome)
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