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    • Spina Bifida & other Dysraphisms (WG13)
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    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
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    • ILIAD RD register
    • Calls for collaboration
    • Publications
    • ITHACA Research Meeting
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    • ERN ITHACA Guidelines
    • Endorsed guidelines
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    • Online Genetics Course APOGeE
    • Survival guide to genetics
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    • MOOC “bioinformatics”
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    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
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    • EuroDysmorpho 2024
    • EuroNDD 2024
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Home > Our Research Activities > List Of Publications > Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

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Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5
Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders
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