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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
Members area Contact
Home > For clinicians > Calls for collaboration > Page 2

Calls for Collaboration

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  • Phenotype of individuals with bi-allelic variants in FRRS1L

    FRRS1L
    Closed
  • Mild forms of tubulinopathies

    Closed
  • XRCC4-related Microcephalic Dwarfism

    XRCC4
    Closed
  • Expanding the phenotypic and genotypic spectrum of neurodevelopmental disorders caused by mono- and biallelic KDM5A pathogenic variants

    KDM5A
    Closed
  • Delineating the phenotype associated with 5q31 duplications involving PURA

    PURA
    Closed
  • Menke-Hennekam syndrome

    Menke-Hennekam syndrome.
    Closed
  • Clinical and molecular description of Townes Brocks

    SALL1
    Closed
  • Genotype-phenotype characterization of YWHAG-related disorders

    YWHAG
    Closed
  • Delineation of the adult phenotype of Nicolaides-Baraitser, Coffin-Siris, Costello and CFC syndrome

    CFC syndrome
    Closed
  • HPDL bi-allelic variants

    HPDL
    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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