Presentation
My research is aimed at understanding the genetic causes and developmental mechanisms underlying craniofacial, cardiac and neurodevelopmental disorders.
Resources & publications
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2020Journal (source)Blood AdvEfficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and...
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2020Journal (source)J Immunol
Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension ...
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2017Journal (source)Am J Med Genet A
Prenatal and postnatal presentations of corpus callosum agenesis with polymic...
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2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2018Journal (source)Front Immunol
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K...
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2017Journal (source)J Allergy Clin Immunol
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndr...
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2018Journal (source)Front Immunol
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-K...
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2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2017Journal (source)Blood
Reticular dysgenesis: international survey on clinical presentation, transpla...