Publications by authors named "E Benzoni"

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Alpha-Antitrypsin Inherited Variants in Patients With Bronchiectasis.
Stefano Aliberti, Andrea Gramegna, Manuela Seia, Francesco Malvestiti, Marco Mantero, Elena Benzoni

Arch Bronconeumol· June 2023

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Unexpected Genotype in a Non-Transfusion Dependent Thalassemia Family.
Cristina Curcio, Valentina Giannone, Elena Benzoni, Claudia Cesaretti, Elena Cassinerio

J Med Cases· April 2020

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Hb Milano [α109(G16)Leu→Pro (CG>CG); : c.329T>C]: A Novel Variant on the α1-Globin Gene in an Italian Family.
Cristina Curcio, Valentina Giannone, Elena Benzoni, Claudia Cesaretti, Giovanni Ivaldi

Hemoglobin· January 2019

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Hb Mozhaisk [β92(F8)His→Arg; HBB: c.278A>G] as a De Novo Mutation in a Child of Mixed Ethnic Origins.
Elena Benzoni, Valentina Giannone, Laura Michetti, Manuela Seia, Laura Cavalleri

Hemoglobin· August 2018

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The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
Michela Robusto, Mingyan Fang, Rosanna Asselta, Pierangela Castorina, Stefano C Previtali, Elena Benzoni

Eur J Hum Genet· June 2015

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