Andrea La Barbera

Publication Activity (10 Years)

Years Active: 2020-2022
Publications (10 Years): 4

Top Topics

Gene Expression

Top Venues

Journal of clinical medicine

Medicina (Kaunas, Lithuania)

This page only lists publications with an associated author ORCID identifier.

Publications

Aldesia Provenzano, Andrea La Barbera, Francesco Lai, Andrea Perra, Antonio Farina, Ettore Cariati, Orsetta Zuffardi, Sabrina Rita Giglio
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females. Journal of clinical medicine 11 (14) (2022)
Aldesia Provenzano, Massimiliano Chetta, Giuseppina De Filpo, Giulia Cantini, Andrea La Barbera, Gabriella Nesi, Raffaella Santi, Serena Martinelli, Elena Rapizzi, Michaela Luconi, Mario Maggi, Massimo Mannelli, Tonino Ercolino, Letizia Canu
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia. Medicina (Kaunas, Lithuania) 58 (8) (2022)
Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Rita Giglio, Rodolfo Iuliano
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions. Genes 12 (9) (2021)
Aldesia Provenzano, Andrea La Barbera, Mirko Scagnet, Angelica Pagliazzi, Giovanna Traficante, Marilena Pantaleo, Lucia Tiberi, Debora Vergani, Nehir Edibe Kurtas, Silvia Guarducci, Sara Bargiacchi, Giulia Forzano, Rosangela Artuso, Viviana Palazzo, Ada Kura, Flavio Giordano, Daniele di Feo, Marzia Mortilla, Claudio De Filippi, Gianluca Mattei, Livia Garavelli, Betti Giusti, Lorenzo Genitori, Orsetta Zuffardi, Sabrina Rita Giglio
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes. Human genetics 140 (4) (2020)