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    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
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    • ITHACA Research Meeting
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    • Methodology
    • 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
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Home > Our Research Activities > List Of Publications > Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations

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Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
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