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List of works by Francesco Saettini

A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency

scientific article published on 28 September 2018

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients

scientific article published on 17 October 2020

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

scientific article published on 01 October 2021

Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndrome

scientific article published on 20 March 2020

Neutropenia, hypogammaglobulinemia, and pneumonia: A case of WHIM syndrome

scientific article published on 01 March 2018

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients

scientific article published on 27 June 2020

Primary immunodeficiencies, autoimmune hyperthyroidism, coeliac disease and systemic lupus erythematosus in childhood immune thrombocytopenia

scientific article published on 06 October 2020

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