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    • Guidelines & consensus (WG11)
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    • Calls for collaboration
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    • ITHACA Research Meeting
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    • ERN ITHACA Guidelines
    • Endorsed guidelines
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    • Online Genetics Course APOGeE
    • Survival guide to genetics
    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”
    • Orphanet Updates
    • 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 > Age and sex prevalence estimate of Joubert syndrome in Italy

Age and sex prevalence estimate of Joubert syndrome in Italy

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study
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