Pubblicazioni

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients

2019 - EUROPEAN JOURNAL OF HUMAN GENETICS

Maioli, Margherita; Gnoli, Maria; Boarini, Manila; Tremosini, Morena; Zambrano, Anna; Pedrini, Elena; Mordenti, Marina; Corsini, Serena; D'Eufemia, Patrizia; Versacci, Paolo; Celli, Mauro; Sangiorgi, Luca

LTBP2-related âMarfan-likeâ phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

2019 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Morlino, Silvia; Alesi, Viola; CalÃ¬, Federica; Lepri, Francesca Romana; Secinaro, Aurelio; Grammatico, Paola; Novelli, Antonio; Drago, Fabrizio; Castori, Marco; Baban, Anwar

Commentary: Biochemical Markers for Diagnosis and Follow-up of Aortic Diseases: An Endless Search for the Holy Grail

2019 - JOURNAL OF ENDOVASCULAR THERAPY

Sangiorgi, Giuseppe; Biondi-Zoccai, Giuseppe; Pizzuto, Alessandra; Martelli, Eugenio

Pubblicazioni

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients

LTBP2-related âMarfan-likeâ phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

Commentary: Biochemical Markers for Diagnosis and Follow-up of Aortic Diseases: An Endless Search for the Holy Grail

LTBP2-related âMarfan-likeâ phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant