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    • Fetal medicine and pathology (WG6)
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    • Guidelines & consensus (WG11)

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  • Our Research Activities
    • ILIAD RD register
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    • ERN ITHACA Guidelines
    • Endorsed guidelines
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    • Survival guide to genetics
    • ESHG Precision Genomic Medicine Course

    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”

    • Orphanet Updates
    • SysNDD Database

    • Training exchanges

    • Educational videos
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  • Mild forms of tubulinopathies

    Call for Collaboration
  • XRCC4-related Microcephalic Dwarfism

    XRCC4
    Call for Collaboration
  • ERN-ITHACA Webinar #6 “Innovation in Newborn Screening across Europe”

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

    KDM5A
    Call for Collaboration
  • Delineating the phenotype associated with 5q31 duplications involving PURA

    PURA
    Call for Collaboration
  • EuroDysmorpho 2023

    Events
  • EuroDysmorpho 2023

    Event
  • Webinar #5: “Guidelines development: from patients to guidelines and back”

    Educational videos
  • ERN-ITHACA Intermediary Board

    Event
  • Menke-Hennekam syndrome

    Menke-Hennekam syndrome.
    Call for Collaboration

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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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