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    • Fetal medicine and pathology (WG6)
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    • Guidelines & consensus (WG11)
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    • Publications
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    • ERN ITHACA 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 > Primrose syndrome: Characterization of the phenotype in 42 patients.

Primrose syndrome: Characterization of the phenotype in 42 patients.

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Aortic dilation in Sotos syndrome: An underestimated feature?
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
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