FALESCHINI, MICHELA

FALESCHINI, MICHELA  

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Titolo Data di pubblicazione Autori File
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 1-gen-2014 FALESCHINI, MICHELABOTTEGA, ROBERTABAJ, GabrieleSAVOIA, ANNA +
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 1-gen-2018 Faleschini, MichelaGiangregorio, TaniaBottega, RobertaSavoia, Anna +
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 1-gen-2015 BOTTEGA, ROBERTAFALESCHINI, MICHELABAJ, GabrieleSAVOIA, ANNA +
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 1-gen-2014 SAVOIA, ANNABOTTEGA, ROBERTADE ROCCO, DANIELAFALESCHINI, MICHELA +
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 1-gen-2016 DE ROCCO, DANIELAGNAN, CHIARAFALESCHINI, MICHELASAVOIA, ANNA +
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 +
Combining next generation sequencing with clinical studies to unravel novel inherited thrombocytopenias affecting half of the patients / identificazione di nuovi geni coinvolti nell'insorgenza di piastrinopenie ereditarie tramite tecnologie di sequenziamento di ultima generazione 1-gen-2015 BOTTEGA, ROBERTAFALESCHINI, MICHELABAJ, GabrieleSAVOIA, ANNA +
DEVELOPMENT OF FUNCTIONAL ASSAYS TO DETERMINE THE PATHOGENIC VARIANTS OBTAINED BY NEXT GENERATION SEQUENCING IN INHERITED THROMBOCYTOPENIAS 7-mar-2016 FALESCHINI, MICHELA
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 1-gen-2022 Faleschini, MichelaPapa, NicoleGiangregorio, TaniaSavoia, 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 +
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 1-gen-2016 BOTTEGA, ROBERTAFALESCHINI, MICHELASAVOIA, ANNA +
FANCA nel mitocondrio: qualche ruolo diretto? 1-gen-2015 BOTTEGA, ROBERTADE ROCCO, DANIELABORTUL, RobertaFALESCHINI, MICHELANICCHIA, ELENAZWEYER, MARINASAVOIA, ANNA +
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. +
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 1-gen-2018 Bottega, RobertaNicchia, ElenaDe Rocco, DanielaFaleschini, MichelaSavoia, Anna +
Identification of microRNAs targeting the DNA damage response in breast cancer 1-gen-2011 BISSO, ANDREAFALESCHINI, MICHELA +
Identification of microRNAs targeting the DNA damage response in breast cancer 1-gen-2011 BISSO, ANDREAFALESCHINI, MICHELAZAMPA, FEDERICODEL SAL, GIANNINO +
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 1-gen-2019 Faleschini, MichelaSavoia, Anna +
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. +
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 1-gen-2013 DE ROCCO, DANIELAFALESCHINI, MICHELABOTTEGA, ROBERTASAVOIA, ANNA +
Mutazioni di ACTN1 in pazienti italiani 1-gen-2013 BOTTEGA, ROBERTAFALESCHINI, MICHELADE ROCCO, DANIELASAVOIA, ANNA +