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    • Our EU expert centers
    • Our Patient Associations
    • Our EU partnerships
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    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
    • Teaching & Training (WG8)
    • APOGeE (WG9)
    • European Certificate (WG10)
    • Research & innovation (WG12)
    • Registries (WG7)
  • Our Research Activities
    • ILIAD RD register
    • Calls for collaboration
    • Publications
    • ITHACA Research Meeting
  • Guidelines
    • Methodology
    • ERN ITHACA Guidelines
    • Endorsed guidelines
    • Patient Journeys
  • Education
    • Online Genetics Course APOGeE
    • Survival guide to genetics
    • ESHG Precision Genomic Medicine Course
    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”
    • Orphanet Updates
    • SysNDD Database
    • Training exchanges
    • Educational videos
  • News & Events
    • Webinars
    • EuroDysmorpho 2025
    • EuroNDD 2026
    • NSEuronet Meeting
    • ERN-ITHACA Winter School
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Home > Our Research Activities > List Of Publications > Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders

Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders

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Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes
The European perspective on the Oberg-Manske-Tonkin classification: challenges for implementation, databases and registries
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