Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome

Por Somaschini, Marco, Presi, Silvia, Ferrari, Maurizio, Vergani, Barbara, Carrera, Paola
Publicado no J Perinatol (2017)

Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches

Por Di Resta, Chiara, Spiga, Ivana, Presi, Silvia, Merella, Stefania, Pipitone, Giovanni Battista, Manitto, Maria Pia, Querques, Giuseppe, Parodi, Maurizio Battaglia, Ferrari, Maurizio, Carrera, Paola
Publicado no EJIFCC (2018)

Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome

Por Micaglio, Emanuele, Andronache, Andreea Alina, Carrera, Paola, Monasky, Michelle M., Locati, Emanuela T., Pirola, Barbara, Presi, Silvia, Carminati, Mario, Ferrari, Maurizio, Giamberti, Alessandro, Pappone, Carlo
Publicado no Int J Mol Sci (2019)