MORGUTTI, MARCELLO

MORGUTTI, MARCELLO  

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Titolo Data di pubblicazione Autori File
Five new OTOF gene mutations and auditory neuropathy 1-gen-2010 Morgutti, MarcelloGasparini, PaoloMartini, Alessandro +
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations 1-gen-2018 Morgan, AnnaLenarduzzi, StefaniaCappellani, StefaniaPecile, VannaMorgutti, MarcelloBrumat, MarcoLa Bianca, MartinaFaletra, FlavioGasparini, PaoloGirotto, Giorgia +
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss 1-gen-2019 Faletra F.Cappellani S.Morgutti M.Mezzavilla M.Peruzzi A.Graziano C.Gasparini P.Girotto G. +
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients 1-gen-2011 CROVELLA, SERGIOSEGAT, LUDOVICAATHANASAKIS, EMMANOUILMORGUTTI, MARCELLOGASPARINI, PAOLO +
Short Communication Novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients 1-gen-2014 LENARDUZZI, STEFANIAMORGUTTI, MARCELLOCROVELLA, SERGIO +
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. +
Usher syndrome: An effective sequencing approach to establish a genetic and clinical diagnosis 1-gen-2015 LENARDUZZI, STEFANIAVOZZI, DiegoMORGAN, ANNARUBINATO, ELISAOSLAND, TERESA MARIAMORGUTTI, MARCELLOGIROTTO, GIORGIA +