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American Journal of Medical Genetics. Part A|May 23, 2013
Two cases of hepatic adenomas in patients with Wolf-Hirschhorn syndrome: a new rare complication?Giulia Prunotto, Paola Cianci, Anna Cereda, et al.Italian Journal of Pediatrics|July 3, 2023
Celiac disease in autism spectrum disorder: data from an Italian child cohortStefania Zambrano, Barbara Parma, Valeria Morabito, et al.American Journal of Medical Genetics. Part A|June 7, 2022
A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literatureRoberto Franceschi, Maria Iascone, Silvia Maitz, et al.Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|August 20, 2009
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndromePaola Castronovo, Cristina Gervasini, Anna Cereda, et al.Italian Journal of Pediatrics|July 16, 2023
Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reportsRoberta Onesimo, Rita De Santis, Chiara Leoni, et al.Nature Genetics|April 11, 2006
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutationsAntonio Musio, Angelo Selicorni, Maria Luisa Focarelli, et al.Birth Defects Research|July 29, 2017
Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome FibroblastsGrazia Fazio, Laura Rachele Bettini, Silvia Rigamonti, et al.Human Vaccines|April 22, 2011
Immunogenicity, safety and tolerability of monovalent 2009 pandemic influenza A/H1N1 MF59-adjuvanted vaccine in children and adolescents with Williams or Cornelia De Lange syndromeSusanna Esposito, Angelo Selicorni, Cristina Daleno, et al.American Journal of Medical Genetics. Part A|March 16, 2013
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndromeBenedetta Masserini, Maria Francesca Bedeschi, Vera Bianchi, et al.International Journal of Pediatric Otorhinolaryngology|April 30, 2014
Audiological findings, genotype and clinical severity score in Cornelia de Lange syndromePaola Marchisio, Angelo Selicorni, Sonia Bianchini, et al.Pageof 19