Presentation
Scientific Publications
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2024Journal (source)Cancer Res
Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes ...
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2020Journal (source)J Immunol
Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension ...
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2020Journal (source)Leukemia
Targeted deep sequencing reveals clonal and subclonal mutational signatures i...
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2020Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2018Journal (source)Gut
NKp46 is a diagnostic biomarker and may be a therapeutic target in gastrointe...
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Journal (source)J. Allergy Clin. Immunol.
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies c...
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2018Journal (source)Clin. Immunol.
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency...
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Journal (source)Journal of biomedical informatics
Finding patients using similarity measures in a rare diseases-oriented clinic...
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2015Journal (source)J. Clin. Invest.
A human immunodeficiency caused by mutations in the PIK3R1 gene.
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2014Journal (source)Blood
RAS-associated lymphoproliferative disease evolves into severe juvenile myelo...
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2011Journal (source)Blood
A survey of 90 patients with autoimmune lymphoproliferative syndrome related ...