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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 +
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss 1-gen-2019 Mezzavilla M.Faletra F.Gasparini P.Girotto G. +
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes 1-gen-2019 Piscianz E.Conversano E.Faletra F.Tommasini A.Valencic E. +
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. +
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? 1-gen-2019 Bottega R.Savoia A.Gasparini P.Faletra F. +
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency 1-gen-2019 Valencic E.Piscianz E.Tommasini A.Faletra F.Todaro F. +
Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report 1-gen-2020 Faletra F.Morgan A.Girotto G. +
A Child With Self-Improving Hypotonia: Look at the Skin! 1-gen-2020 Conversano, EsterAgrusti, AnnaConti, RosauraMagnolato, AndreaBruno, IreneBarbi, EgidioFaletra, Flavio +
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet 1-gen-2020 Gianluca TorneseGiuseppa PattiMaria Chiara PellegrinPaola CostaFlavio FaletraEgidio Barbi +
An unusual diagnosis for an usual test 1-gen-2020 Andrea TrombettaVanessa MigliarinoFlavio FaletraEgidio BarbiGianluca Tornese
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 1-gen-2020 Fantasia I.Stampalija T.Quadrifoglio M.Faletra F. +
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 1-gen-2020 Morgan A.Spedicati B.Graziano C.Faletra F.Girotto G. +
TBC1D24 and non-syndromic autosomal dominant hearing loss: the identification of an additional Italo-American family carrying the p.(S178L) mutation 1-gen-2021 Beatrice SpedicatiAnna MorganFlavio FaletraAgnese FeresinPaolo GaspariniGiorgia Girotto +
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 1-gen-2021 Faletra F.Garcia Garcia M. E.Gasparini P. +
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies 1-gen-2021 Valencic, EricaDa Lozzo, PriscaTornese, GianlucaGhirigato, ElenaPiscianz, ElisaFaletra, FlavioTaddio, AndreaTommasini, AlbertoMagnolato, Andrea +
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease 1-gen-2021 Morgan A.La Bianca M.Faletra F.Girotto G. +
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 1-gen-2021 Valencic E.Piscianz E.Tommasini A.Faletra F.Todaro F.Badolato R. +
When salt is needed to grow: Questions 1-gen-2021 Conversano, EsterRomano, SaraTaddio, AndreaFaletra, FlavioZanon, DavideBarbi, Egidio +
Could the MED13 mutations manifest as a Kabuki-like syndrome? 1-gen-2021 De Nardi L.Faletra F.D'Adamo A. P.Bianco A. M. R.Athanasakis E.Barbi E. +
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss 1-gen-2021 Bassani, SissyMorgan, AnnaCocca, MassimilianoFaletra, FlavioGasparini, PaoloGirotto, Giorgia +
Mostrati risultati da 21 a 40 di 61
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