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Titolo Data di pubblicazione Autori File
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 1-gen-2021 Fantasia I.Feresin A.Faletra F.Mordeglia D.Barbieri M.Stampalija T. +
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. +
When salt is needed to grow: Answers 1-gen-2021 Conversano E.Romano S.Taddio A.Faletra F.Zanon D.Barbi E. +
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 +
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. +
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 1-gen-2022 Faletra, FlavioSpedicati, BeatriceGasparini, Paolo +
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry 1-gen-2022 Dibello, DanielaTorelli, Luciod’Adamo, Adamo PioFaletra, FlavioMangogna, AlessandroColin, Giulia +
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss 1-gen-2022 Morgan A.Faletra F.Severi G.La Bianca M.Gasparini P.Graziano C.Girotto G. +
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures 1-gen-2022 Spedicati, BeatriceMorgan, AnnaRubinato, ElisaSantin, AuroraFaletra, FlavioGirotto, Giorgia +
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study 1-gen-2022 Bianco, Anna MonicaFaletra, FlavioDi Stazio, MariateresaCappellani, StefaniaDibello, Danielad’Adamo, Adamo P. +
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. +
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition 1-gen-2022 Faletra, FlavioMagnolato, AndreaLa Bianca, MartinaFeresin, AgneseGirotto, GiorgiaGasparini, PaoloCosta, PaolaCarrozzi, Marco +
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. +
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge 1-gen-2022 Costa, PaolaFaletra, FlavioBianco, Anna M.La Bianca, MartinaAthanasakis, Emmanouild’Adamo, Adamo P.Carrozzi, MarcoGasparini, Paolo +
Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling 1-gen-2022 Feresin, AgneseStampalija, TamaraCappellani, StefaniaBussani, RossanaFaletra, FlavioBosio, BarbaraArdisia, Carmela +
The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles 1-gen-2023 Fantasia, IlariaBianchini, IreneBussolaro, SofiaQuadrifoglio, MariachiaraLo Bello, LeilaRicci, GiuseppeFaletra, FlavioFeresin, AgneseStampalija, Tamara +
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders 1-gen-2023 Di Stazio, MariateresaFaletra, FlavioMorgan, AnnaGirotto, GiorgiaCosta, PaolaCarrozzi, Marcod’Adamo, Adamo P. +
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature 1-gen-2023 Fantasia, IlariaFaletra, FlavioBussani, RossanaOttaviani Giammarco, ChiaraTravan, LauraFeresin, AgneseStampalija, Tamara +
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature 1-gen-2023 Elefante, PierandreaSpedicati, BeatriceFaletra, FlavioBarbi, EgidioTravan, Laura +
Mostrati risultati da 41 a 60 di 61
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