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    • To change the lives of families affected by genetic diseases
    • An Institute that fights genetic diseases
      • Find out more about genetic diseases
      • What is a genetic disease?
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      • A few words to explain Genetics and diseases
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Resources & publications

  • All team publications
  • Publications
  • Journal (source)
    Blood Adv
    2020

    Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and...

  • Journal (source)
    J Immunol
    2020

    Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension ...

  • Journal (source)
    Am J Med Genet A
    2017

    Prenatal and postnatal presentations of corpus callosum agenesis with polymic...

  • Journal (source)
    J Allergy Clin Immunol
    2021

    Improving the diagnostic efficiency of primary immunodeficiencies with target...

  • Journal (source)
    Front Immunol
    2018

    Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K...

  • Journal (source)
    J Allergy Clin Immunol
    2017

    Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr...

  • Journal (source)
    Front Immunol
    2018

    Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K...

  • Journal (source)
    J Allergy Clin Immunol
    2021

    Improving the diagnostic efficiency of primary immunodeficiencies with target...

  • Journal (source)
    Blood
    2017

    Reticular dysgenesis: international survey on clinical presentation, transpla...

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