Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique

por Di Stazio, Mariateresa, Foschi, Nicola, Athanasakis, Emmanouil, Gasparini, Paolo, d’Adamo, Adamo Pio
Publicado 2021

Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

por Di Stazio, Mariateresa, Bigoni, Stefania, Iuso, Nicola, Vuch, Josef, Selvatici, Rita, Ulivi, Sheila, d’Adamo, Pio Adamo
Publicado 2021

Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss

por Girotto, Giorgia, Morgan, Anna, Krishnamoorthy, Navaneethakrishnan, Cocca, Massimiliano, Brumat, Marco, Bassani, Sissy, La Bianca, Martina, Di Stazio, Mariateresa, Gasparini, Paolo
Publicado 2019

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders

por Di Stazio, Mariateresa, Zanus, Caterina, Faletra, Flavio, Pesaresi, Alessia, Ziccardi, Ilaria, Morgan, Anna, Girotto, Giorgia, Costa, Paola, Carrozzi, Marco, d’Adamo, Adamo P., Musante, Luciana
Publicado 2023

PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss

por Girotto, Giorgia, Scheffer, Déborah I., Morgan, Anna, Vozzi, Diego, Rubinato, Elisa, Di Stazio, Mariateresa, Muzzi, Enrico, Pensiero, Stefano, Giersch, Anne B., Corey, David P., Gasparini, Paolo
Publicado 2015

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss

por Morgan, Anna, Vuckovic, Dragana, Krishnamoorthy, Navaneethakrishnan, Rubinato, Elisa, Ambrosetti, Umberto, Castorina, Pierangela, Franzè, Annamaria, Vozzi, Diego, La Bianca, Martina, Cappellani, Stefania, Di Stazio, Mariateresa, Gasparini, Paolo, Girotto, Giorgia
Publicado 2018

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study

por Bianco, Anna Monica, Ragusa, Giulia, Di Carlo, Valentina, Faletra, Flavio, Di Stazio, Mariateresa, Racano, Costantina, Trisolino, Giovanni, Cappellani, Stefania, De Pellegrin, Maurizio, d’Addetta, Ignazio, Carluccio, Giuseppe, Monforte, Sergio, Andreacchio, Antonio, Dibello, Daniela, d’Adamo, Adamo P.
Publicado 2022

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss

por Vuckovic, Dragana, Dawson, Sally, Scheffer, Deborah I., Rantanen, Taina, Morgan, Anna, Di Stazio, Mariateresa, Vozzi, Diego, Nutile, Teresa, Concas, Maria P., Biino, Ginevra, Nolan, Lisa, Bahl, Aileen, Loukola, Anu, Viljanen, Anne, Davis, Adrian, Ciullo, Marina, Corey, David P., Pirastu, Mario, Gasparini, Paolo, Girotto, Giorgia
Publicado 2015