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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
    • Past Events
    • Upcoming Events
    • EuroNDD 2023
    • EuroDysmorpho 2023
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Home > For clinicians > Calls for collaboration > Page 9

Calls for Collaboration

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Download here the template to submit your call by email to the coordination team
  • TRIP12-associated neurodevelopmental disorder

    TRIP12
    Closed
  • ZBTB47/ZNF651 variants

    ZBTB47
    Closed
  • Expanding the phenotype related to de novo missense variants in HNRNPH2

    HNRNPH2
    Closed
  • Correlation between intellectual disability and cutaneous skin mosaicism

    Cutaneous skin mosaicism
    Closed
  • Clinical and molecular characterization of a novel MYCN related syndrome – A mirror phenotype and molecular of the Feingold syndrome

    MYCN
    Closed
  • B4GALT5 as potential candidate gene for a novel sphingolipid disorder

    B4GALT5
    Closed
  • RAB10: a candidate gene for a severe neurodevelopmental syndrome

    RAB10
    Closed
  • CHAMP1 clinical spectrum (MRD40 – OMIM 616579)

    CHAMP1
    Closed
  • Phenotypic delineation of patients with bi-allelic CDK10 mutations (Al Kaissi syndrome)

    CDK10/Al Kaissi syndrome
    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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