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    • 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 3

Calls for Collaboration

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  • Further delineation of the phenotypic spectrum associated to BMP4 pathogenic variants

    BMP4
    Closed
  • XPO7-associated neurodevelopmental disorder

    XPO7
    Closed
  • CTNNA3 microdeletion: a description of clinical features

    CTNNA3
    Closed
  • Development of a DNA methylation episignature for variants in KDM3

    KDM3
    Closed
  • KBG syndrome evolving phenotype

    KBG syndrome
    Closed
  • CTNNA3 microdeletion: a description of clinical features

    CTNNA3
    Closed
  • A novel X-linked syndromic neurodevelopmental disorders associated with WDR44 pathogenic variants

    WDR44
    Closed
  • TRA2B-associated neurodevelopmental delay

    TRA2B
    Closed
  • De novo missense variants in EIF3I cause a novel neurodevelopmental disorder with midline brain defects and skeletal abnormalities

    EIF3I
    Closed
  • Search for patients harbouring a de novo heterozygous variant in SP9 gene

    SP9
    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

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