Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers‐Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigreesMarco Castori, Marina Colombi, Paola Grammatico et al.|American Journal of Medical Genetics Part A|2014Cited by 79
Clinical and genetic study of two patients with Zimmermann–Laband syndrome and literature reviewMarco Castori, Paola Grammatico, Vincenzo Leuzzi et al.|European Journal of Medical Genetics|2013Cited by 37
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers‐Danlos syndrome, hypermobility typeMarco Castori, Marina Colombi, Marco Ritelli et al.|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2015Cited by 37
Clinical presentation and molecular characterization of a novel patient with variant <i> <scp>POC1A</scp> ‐ </i> related syndromeSilvia Majore, Paola Grammatico, Emanuele Agolini et al.|Clinical Genetics|2020Cited by 14
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletionGiulia Pascolini, Paola Grammatico, Nicole Fleischer et al.|European Journal of Medical Genetics|2019Cited by 9