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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
  • ERN Publications
    • Educational Resources
    • Online Genetics Course APOGeE
    • Guidelines
    • Phelan-McDermid Guideline
    • Orphanet Updates
    • SysNDD
    • Survival guide to genetics
  • News
  • Events
    • Past Events
    • Upcoming Events
    • Multidisciplinary Fetal Diagnostics Winter School – 2023 edition
    • EuroDysmorpho 2023 Photos
Members area Contact
Home > For clinicians > Calls for collaboration > Page 3

Calls for Collaboration

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  • July 25, 2023

    CARS2-associated neurodevelopmental disorder with epileptic encephalopathy and a complex movement disorder.

    CARS2
    Closed
  • July 21, 2023

    Prenatal and postnatal phenotype spectrum for KIF4A variants

    KIF4A
    Closed
  • July 21, 2023

    BRAT1-associated neurodevelopmental disorder

    BRAT1
    Closed
  • July 21, 2023

    Clinical and genetic delineation of autosomal recessive UFSP2-related developmental and epileptic-dyskinetic encephalopathy

    UFSP2
    Closed
  • July 10, 2023

    ACBD6-associated neurodevelopmental syndrome with progressive complex movement disorders

    ACBD6
    Closed
  • July 7, 2023

    Pathogenic heterozygous variants of GSK3B

    GSK3B
    Closed
  • July 6, 2023

    Clinical and genetic delineation of recessive RBL2-related neurodevelopmental syndrome

    RBL2
    Closed
  • July 6, 2023

    Refining phenotypes in females and males presenting with RNF113A-related X-linked trichothiodystrophy

    RNF113A
    Closed
  • July 5, 2023

    CHD3 related syndrome investigation and molecular description

    CHD3
    Closed
  • July 4, 2023

    Clinical and genetic characterization of SLC9A1 and CHP1-related ataxia

    CHP1
    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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