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Titolo Data di pubblicazione Autori File
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 1-gen-2015 NICCHIA, ELENAGRECO, CHIARABOTTEGA, ROBERTAFALESCHINI, MICHELABONIN, SerenaSAVOIA, ANNA +
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 1-gen-2015 BOTTEGA, ROBERTAFALESCHINI, MICHELABAJ, GabrieleSAVOIA, ANNA +
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 1-gen-2016 BOTTEGA, ROBERTAFALESCHINI, MICHELASAVOIA, ANNA +
Mutations of RUNX1 in families with inherited thrombocytopenia 1-gen-2017 DE ROCCO, DANIELABOTTEGA, ROBERTAGNAN, CHIARASAVOIA, ANNA +
Gray platelet syndrome: Novel mutations of the NBEAL2 gene 1-gen-2017 BOTTEGA, ROBERTANICCHIA, ELENASAVOIA, ANNA +
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 1-gen-2018 Bottega, RobertaNicchia, ElenaDe Rocco, DanielaFaleschini, MichelaSavoia, Anna +
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 1-gen-2018 Faleschini, MichelaGiangregorio, TaniaBottega, RobertaSavoia, Anna +
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? 1-gen-2019 Bottega R.Savoia A.Gasparini P.Faletra F. +
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4 1-gen-2019 Bottega R.Perrone M. D.Vecchiato K.Taddio A.Pecile V.Said H. M. +
Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia 1-gen-2021 Bottega R.Faleschini M.Medagli B.Savoia A. +
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 1-gen-2022 Bottega R.Persico I.Faleschini M.Valencic E.d'Adamo A. P.Tommasini A.Faletra F.Savoia A. +
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. +
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 +
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 1-gen-2022 Faleschini, MichelaPapa, NicoleGiangregorio, TaniaSavoia, AnnaBottega, Roberta +
Mostrati risultati da 21 a 34 di 34
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