Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJ. K. J. VAN HOUDT, Joris Vermeesch, Alejandro Sifrim et al.|Nature Genetics|2012Cited by 244
Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsMarco Ritelli, Marina Colombi, Chiara Dordoni et al.|Orphanet Journal of Rare Diseases|2013Cited by 126
Ten-Year Longitudinal Study of Thyroid Function in Children with Down's SyndromeLorenzo Iughetti, Mauro Bozzola, Barbara Predieri et al.|Hormone Research in Paediatrics|2014Cited by 63