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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 - 6 of 6
- PublicationGNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
; ;Marzollo Antonio ;Marinoni Maddalena ;Athanasakis Emmanouil ;Persico Ilaria; ; ; ;Simoncini Daniela ;Rossini Linda ;Corsolini Fabio; ;Robustelli Giuseppe ;Gabelli Maria ;Agosti Massimo ;Biffi Alessandra ;Grotto Paolo ;Bozzi Valeria ;Noris Patrizia ;Burlina Alberto B; ; ; ;Pastore Annalisa; - PublicationGenomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia
; ;Ravera Silvia ;Napolitano Luisa M R ;Chiappetta Viviana ;Zini Nicoletta ;Crescenzi Barbara ;Arniani Silvia; ;Cortone Giuseppe; ;Medagli Barbara ;Sirchia Fabio ;Moretti Martina ;de Lange Job ;Cappelli Enrico ;Mecucci Cristina ;Onesti Silvia ;Pisani Francesca M; - PublicationDysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation
; ;Papa Nicole ;Morel-Kopp M.-C. ;Marconi C. ;Giangregorio T. ;Melazzini F. ;Bozzi V. ;Seri M. ;Noris P. ;Pecci A.; ; - PublicationETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism
; ;Ammeti Daniele ;Nicole Papa ;Caterina Alfano; ;FONTANA GIORGIA; ;ZANCHETTA MELANIA EVA ;Federico Pozzani ;Francesca Montanari ;Valeria Petroni ;Paola Giordano ;Patrizia Noris ;Fiorina Giona; - PublicationThings come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
;Ilaria Persico ;Agnese Feresin; ;FONTANA GIORGIA ;Fabio Sirchia; ; ;Suergiu Sarah ;Morgutti Marcello; ; ;Karen S. Raraigh; - PublicationExome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
;Caterina Marconi ;Alessandro Pecci ;Flavia Palombo ;Federica Melazzini; ;Elena Nardi ;Valeria Bozzi; ;Serena Barozzi ;Tania Giangregorio ;Pamela Magini ;Carlo L Balduini; ;Marco Seri ;Patrizia NorisTommaso Pippucci