FONTANA, GIORGIA

FONTANA, GIORGIA  

Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute  

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Titolo Data di pubblicazione Autori File
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation 1-gen-2023 Persico, IlariaFontana, GiorgiaFaleschini, MichelaZanchetta, Melania EvaAmmeti, DanieleSavoia, AnnaBottega, Roberta +
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism 1-gen-2022 Faleschini, MichelaAmmeti, DanielePapa, NicoleBottega, RobertaFontana, GiorgiaCapaci, ValeriaZanchetta, Melania ESavoia, Anna +
FUNCTIONAL ANALYSIS OF NEW GENETIC VARIANTS IDENTIFIED IN GENES OF INHERITED THROMBOCYTOPENIA 26-mar-2021 FONTANA, GIORGIA
Intestinal Anti-Endomysium Antibodies Are a Useful Tool for Diagnosing Celiac Disease in Pediatric and Adult Patients 1-gen-2024 Fabiana ZibernaFabio MonicaRenato CannizzaroGiorgia FontanaGrazia Di LeoSara LegaMatteo BramuzzoLuca RonfaniLuigina De LeoTarcisio Not +
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 1-gen-2022 Persico I.Feresin A.Faleschini M.Fontana G.Faletra F.La Bianca M.Morgutti M.D'Adamo A. P.Savoia A.Bottega R. +