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Titolo Tipologia Data di pubblicazione Autori File
Isolated leukopenia in children and adolescents referred to a Pediatric Hematology Clinic 01 - Articolo su rivista 2023 Saettini F.Bonanomi S.Orlandi S.Biondi A.Balduzzi A.Coliva T.
Finding balance between mature and immature neutrophils: The effects of empagliflozin in GSD-Ib 01 - Articolo su rivista 2023 Guerra, FabiolaBonanomi, SoniaCrescitelli, ViolaBiondi, AndreaSaettini, Francesco +
Pediatric immune myelofibrosis (PedIMF) as a novel and distinct clinical pathological entity 01 - Articolo su rivista 2022 Guerra, FabiolaL'Imperio, VincenzoBonanomi, SoniaSpinelli, MarcoColiva, Tiziana AngelaDell'Acqua, FabiolaFerrari, Giulia MariaCorti, PaolaBalduzzi, AdrianaBiondi, AndreaPagni, FabioSaettini, Francesco
Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient 01 - Articolo su rivista 2022 Saettini F.Ferrari G. M.Corti P.Ippolito D.Biondi A. +
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype 01 - Articolo su rivista 2022 Saettini F.Fazio G.Cazzaniga G.Biondi A. +
Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome 01 - Articolo su rivista 2022 Saettini, FrancescoColiva, Tiziana AngelaGalbiati, MartaCazzaniga, GiovanniBiondi, Andrea +
Severe and recurrent infections identify severe congenital neutropenia and primary immunodeficiencies in pediatric isolated neutropenia 01 - Articolo su rivista 2021 Saettini F.Mantovani P.Biondi A.Bonanomi S. +
A novel germline mutation of ada2 gene in two “discordant” homozygous female twins affected by adenosine deaminase 2 deficiency: Description of the bone-related phenotype 01 - Articolo su rivista 2021 Saettini F.Cattoni A. +
When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis 01 - Articolo su rivista 2021 Saettini F.Coliva T.Biondi A.Balduzzi A.Bonanomi S. +
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis 01 - Articolo su rivista 2021 Saettini F.Fazio G.Ippolito D.Mauri M.Melzi M. L.Bonanomi S.Gerussi A.Piazza R.Cazzaniga G.Invernizzi P.Biondi A. +
Primary immunodeficiencies, autoimmune hyperthyroidism, coeliac disease and systemic lupus erythematosus in childhood immune thrombocytopenia 01 - Articolo su rivista 2021 Saettini F.Cattoni A.Ferrari G. M.Biondi A. +
A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2 01 - Articolo su rivista 2021 Saettini F.Castelli I.Fazio G.Quadri M.Cazzaniga G.Balduzzi A. C.Biondi A.Rizzari C.Bonanomi S. +
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency 01 - Articolo su rivista 2021 Saettini F.Bonanomi S.Fazio G.Gasperini S.Quadri M.Mauri M.Cazzaniga G.Gaipa G.Piazza R.Biondi A. +
Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations 01 - Articolo su rivista 2020 Saettini F.Fazio G.Quadri M.Cazzaniga G.Biondi A. +
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond-like syndrome 01 - Articolo su rivista 2020 Saettini, FCattoni, AD'Angiò, MCorti, PPagni, FBiondi, ABonanomi, S +
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients 01 - Articolo su rivista 2020 Saettini F.Biondi A. +
More than an ‘atypical’ phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy 01 - Articolo su rivista 2020 Saettini F.L'Imperio V.Fazio G.Cazzaniga G.Biondi A.Corti P. +
Clinical features of Epstein-Barr virus infection in primary immunodeficiency patients 01 - Articolo su rivista 2019 Saettini F.Biondi A. +
Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature 01 - Articolo su rivista 2019 Saettini, FCastelli, IRizzari, C +
A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency 01 - Articolo su rivista 2018 Saettini, FrancescoGrioni, AndreaRizzari, CarmeloPavan, FabioSpinelli, MarcoBettini, Laura RacheleBiondi, Andrea +
Mostrati risultati da 1 a 20 di 24
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