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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 6

Calls for Collaboration

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Download here the template to submit your call by email to the coordination team
  • April 27, 2023

    Vitamin D and calcium metabolism in adults with Williams-Beuren syndrome

    Williams-Beuren
    Closed
  • April 27, 2023

    Clinical characterization of gnathodiaphyseal dysplasia related to heterozygous mutation of ANO5 gene

    ANO5
    Closed
  • March 15, 2023

    Expanding the phenotype of patients with bi-allelic variants in SCAPER

    SCAPER
    Closed
  • March 15, 2023

    Clinical, radiological, and molecular features of TOE1-related disorders

    TOE1
    Closed
  • March 13, 2023

    Microcephalic dwarfisms: growth parameters, brain imaging and cognitive profile

     BLM, CENPJ, CEP135, CEP152, LIG4, PCNT, PLK4
    Closed
  • March 13, 2023

    Delineating the clinical and molecular spectrum of NSMCE2 recessive disorder

    NSMCE2
    Closed
  • March 6, 2023

    Delineating the phenotype associated with CA8-related disorders

    CA8
    Closed
  • March 6, 2023

    Delineation of the clinical and genetic features of the ultra-rare ZBTB11-related disorders

    ZBTB11
    Closed
  • March 3, 2023

    TUBA1B
    Closed
  • March 3, 2023

    De novo mutation in DOP1A, expanding the phenotypic spectrum

    DOP1A
    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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