Anna Savoia
10PUBLICATIONS
38CO-AUTHORS
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Publications (10)
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|Aug 06, 2025
Novel Biallelic Variants in CPOX Gene in a Case of Hereditary Coproporphyria With Antenatal Onset and Adverse Neonatal Outcome: A Potential Diagnostic Clue of Harderoporphyria?Chiara Patelli, Gabriele Tonni, Maria Iascone
|Feb 26, 2025
Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?Daniele Ammeti, Tonia De Simone, Stefania Zampieri
|Jan 10, 2025
Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.Valeria Capaci, Melania Eva Zanchetta, Giorgia Fontana
|May 30, 2024
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.Antonio Marzollo, Stefania Zampieri, Serena Barozzi
|Apr 10, 2024
ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.Melania Eva Zanchetta, Serena Barozzi, Federica Isidori
|Aug 23, 2023
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.Daniele Ammeti, Antonio Marzollo, Maria Gabelli
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Frequent Collaborators
7 joint publications
Michela Faleschini
3 joint publications
Daniele Ammeti
3 joint publications
Melania Eva Zanchetta
2 joint publications
Silvia Bresolin
2 joint publications
Giorgia Fontana
2 joint publications
Alessandro Pecci
2 joint publications
Serena Barozzi
1 joint publications
Roberta Bottega
1 joint publications
Nicoletta Zini
1 joint publications
Flavio Faletra
