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Publications by Luciana Chessa

Mutations in DONSON Disrupt Replication Fork Stability and Cause Microcephalic Dwarfism

Nature Genetics
Genetics
2017English

Genotype–phenotype Correlations in Ataxia Telangiectasia Patients With ATM C.3576G>A and C.8147T>C Mutations

Journal of Medical Genetics
Genetics
2019English

Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2014English

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

PLoS ONE
Multidisciplinary
2015English

Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) Gene Mutations on Male Infertility

Archivio Italiano di Urologia Andrologia
Urology
2014English

Chk2 Activation Dependence on Nbs1 After DNA Damage

Molecular and Cellular Biology
Cell BiologyMolecular Biology
2001English

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