DI STAZIO, MARIATERESA

DI STAZIO, MARIATERESA  

Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute  

Collaboratori  

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Risultati 1 - 15 di 15 (tempo di esecuzione: 0.003 secondi).
Titolo Data di pubblicazione Autori File
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA 1-gen-2007 DI STAZIO, MARIATERESASAVOIA, ANNA +
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 1-gen-2011 SAVOIA, ANNADE ROCCO, DANIELADI STAZIO, MARIATERESABOTTEGA, ROBERTA +
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations 1-gen-2007 SAVOIA, ANNADI STAZIO, MARIATERESA +
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II non-muscle myosin heavy chains 1-gen-2004 DI STAZIO, MARIATERESASAVOIA, ANNA +
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss 1-gen-2015 VUCKOVIC, DRAGANAMORGAN, ANNADI STAZIO, MARIATERESAVOZZI, DiegoCONCAS, MARIA PINAGASPARINI, PAOLOGIROTTO, GIORGIA +
Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes 1-gen-2021 Di Stazio, MariateresaVuch, Josefd’Adamo, Pio Adamo +
Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. 1-gen-2008 SAVOIA, ANNADI STAZIO, MARIATERESA +
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 1-gen-2011 SAVOIA, ANNAGNAN, CHIARADE ROCCO, DANIELADI STAZIO, MARIATERESA +
New age-related hearing loss candidate genes in humans: an ongoing challenge 1-gen-2020 Di Stazio M.Morgan A.Brumat M.Bassani S.Gasparini P.Girotto G. +
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss 1-gen-2019 Girotto, GiorgiaMorgan, AnnaCocca, MassimilianoBrumat, MarcoBASSANI, SISSYLa Bianca, MartinaDi Stazio, MariateresaGasparini, Paolo +
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss 1-gen-2019 Morgan, AnnaVuckovic, DraganaRubinato, ElisaVozzi, DiegoLa Bianca, MartinaCappellani, StefaniaDi Stazio, MariateresaGasparini, PaoloGirotto, Giorgia +
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family 1-gen-2014 DI STAZIO, MARIATERESAMAGLIONE, MICHELEPENSIERO, STEFANO +
PSIP1/LEDGF: A new gene likely involved in sensorineural progressive hearing loss 1-gen-2015 GIROTTO, GIORGIAMORGAN, ANNAVOZZI, DiegoRUBINATO, ELISADI STAZIO, MARIATERESAPENSIERO, STEFANOGASPARINI, PAOLO +
Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique 1-gen-2021 Di Stazio M.Foschi N.Athanasakis E.Gasparini P.d'Adamo A. P.
TBL1Y: a new gene involved in syndromic hearing loss 1-gen-2019 Mariateresa Di StazioChiara CollesiDiego VozziAnna MorganPio Adamo D′AdamoGiorgia GirottoElisa RubinatoMauro GiaccaPaolo Gasparini +