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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
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Home > For clinicians > Calls for collaboration > Page 7

Calls for Collaboration

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  • March 2, 2023

    Delineating the clinical and molecular spectrum of METTL5 recessive disorder

    METTL5
    Closed
  • March 2, 2023

    Clinical and genetic delineation of autosomal dominant and recessive forms of ACTL6B-related disorders

    ACTL6B
    Closed
  • March 1, 2023

    Phenotype of individuals with bi-allelic variants in FRRS1L

    FRRS1L
    Closed
  • February 7, 2023

    Mild forms of tubulinopathies

    Closed
  • January 27, 2023

    XRCC4-related Microcephalic Dwarfism

    XRCC4
    Closed
  • January 19, 2023

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

    KDM5A
    Closed
  • January 17, 2023

    Delineating the phenotype associated with 5q31 duplications involving PURA

    PURA
    Closed
  • January 10, 2023

    Menke-Hennekam syndrome

    Menke-Hennekam syndrome.
    Closed
  • November 23, 2022

    Clinical and molecular description of Townes Brocks

    SALL1
    Closed
  • October 26, 2022

    Genotype-phenotype characterization of YWHAG-related disorders

    YWHAG
    Closed

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