Placing joint hypermobility in context: traits, disorders and syndromes

por Morlino, Silvia, Castori, Marco
Publicado 2023

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders

por Fusco, Carmela, Morlino, Silvia, Micale, Lucia, Ferraris, Alessandro, Grammatico, Paola, Castori, Marco
Publicado 2019

Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

por Micale, Lucia, Morlino, Silvia, Schirizzi, Annalisa, Agolini, Emanuele, Nardella, Grazia, Fusco, Carmela, Castellana, Stefano, Guarnieri, Vito, Villa, Roberta, Bedeschi, Maria Francesca, Grammatico, Paola, Novelli, Antonio, Castori, Marco
Publicado 2020