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    • Fetal medicine and pathology (WG6)
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    • Guidelines & consensus (WG11)
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    • Registries (WG7)
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    • ILIAD RD register
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    • ERN ITHACA Guidelines
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    • MOOC “bioinformatics”
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    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
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Home > Our Research Activities > List Of Publications > Defining the clinical phenotype of Saul-Wilson syndrome

Defining the clinical phenotype of Saul-Wilson syndrome

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Skeletal ciliopathies: a pattern recognition approach
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
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