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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)
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    • ILIAD RD register
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    • ERN ITHACA Guidelines
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    • Online Genetics Course APOGeE
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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
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Home > Our Research Activities > List Of Publications > Skeletal ciliopathies: a pattern recognition approach

Skeletal ciliopathies: a pattern recognition approach

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An overview of health issues and development in a large clinical cohort of children with Angelman syndrome
Defining the clinical phenotype of Saul-Wilson syndrome
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