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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
    • Phelan-McDermid Guideline
    • Orphanet Updates
    • SysNDD
  • News
  • Events
    • Past Events
    • Upcoming Events
    • EuroNDD 2023
    • EuroDysmorpho 2023
Members area Contact
Home > For clinicians > Calls for collaboration

Calls for Collaboration

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  • LRRC8A de novo variant

    LRRC8A
    Closed
  • SETD5 prenatal phenotype: a review

    SETD5
    Closed
  • Further expansion of the MAP4K4-related phenotype

    MAP4K4
    Closed
  • Expanding the phenotype of PBX1 syndrome

    PBX1
    Closed
  • Urinary glucotetrasaccharides elevation in IHPRF1 patients due to homozygous or compound heterozygous deleterious variants in NALCN gene

    IHPRF1
    Closed
  • Functional testing of UBE2O variants

    UBE2O
    Closed
  • Pathogenic variants in PUS7 are responsible for IDDABS but could also be related to Tsukahara syndrome

    PUS7
    Closed
  • Parent-reported functional abilities in patients with FOXP1 syndrome

    PUS7
    Closed
  • CEP76 bi-allelic variants

    CEP76
    Closed
  • Recessive variants in SLC19A1

    SLC19A1
    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.

ITHACA logo was created by George Quiney and Angelina Bauder

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