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  • About Us
    • Who We Are
    • Governance
    • What We Do
    • Workgroups
    • Partners
    • European Reference Networks
    • Interaction with Other European Initiatives
  • For Clinicians
    • How ERN-ITHACA Helps Health Professionals?
    • Calls for Collaboration
    • European Exchange Program
    • 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
    • Orphanet Updates
    • SysNDD
  • News
  • Events
    • EuroDysmorpho
    • EuroNDD 2023
    • Upcoming Events
Members area Contact
Home > For clinicians > Calls for collaboration > Page 2

Calls for Collaboration

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Download here the template to submit your call by email to the coordination team
  • Expanding the phenotypic and genotypic spectrum of HIDEA syndrome caused by biallelic P4HTM pathogenic variants

    P4HTM
    Closed
  • SPOP-related Neurodevelopmental Disorders

    SPOP
    Closed
  • Geleophysic and acromicric dysplasias: study of the natural history

    Geleophysic dysplasias
    Closed
  • Consortium for treating Kosaki syndrome

    Kosaki Syndrome
    Closed
  • Long-term cardiological manifestations in patients with mutations in the SKI gene

    SKI
    Closed
  • SF1 variants in neurodevelopmental disorders

    SF1
    Closed
  • KDM4B gene: clinical phenotype and methylation signature

    KDM4B
    Closed
  • Defining Myhre syndrome in Adulthood

    Myhre syndrome
    Closed
  • Mild phenotype of EEF1A2 variants

    EEF1A2
    Closed
  • A novel neurodevelopmental disorders associated with heterozygous DLX1 variants

    DLX1
    Closed

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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.

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