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    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
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    • APOGeE (WG9)
    • European Certificate (WG10)
    • Research & innovation (WG12)
    • Registries (WG7)
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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 > Exome sequencing identifies the first genetic determinants of sirenomelia in humans

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

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Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
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