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Savoia, Anna
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Preferred name
Savoia, Anna
Main Affiliation
Email
anna.savoia@burlo.trieste.it
ORCID
Scopus Author ID
7007026639
Researcher ID
B-6463-2014
Research Output
Now showing 1 - 10 of 10
- PublicationGNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
; ; ; ; ; ; ; ; ; - PublicationA novel mutation in gp1bb reveals the role of the cytoplasmic domain of gpibß in the pathophysiology of bernard¿soulier syndrome and gpib¿ix complex assembly
; ; Pecci A. - PublicationGenomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia
; ; ; ; - PublicationDysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation
; ; ; - PublicationETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism
; ; ; ; - PublicationGP1BB c.179C > T is the most frequent cause of monoallelic Bernard¿Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families
; - PublicationThings come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
; ; ; ; ; ; - PublicationExome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
; ; ; - PublicationDefective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia
; ; ; - Publication"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP)
; ; ; Paola Giordano