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Acta Paediatrica (Oslo, Norway : 1992)|May 12, 2010
Barrett's esophagus and Cornelia de Lange SyndromeFrancesco Macchini, Giorgio Fava, Angelo Selicorni, et al.Molecular and Cellular Probes|November 7, 2003
A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndromeSilvia Russo, Monica Mencarelli, Florinda Cavalleri, et al.Acta Paediatrica (Oslo, Norway : 1992)|September 14, 2007
Coeliac disease and Cornelia de Lange syndrome: lack of associationFrancesco Macchini, Angelo Selicorni, Sergio Luzzani, et al.Journal of Pediatric Surgery|October 31, 2008
Videoendoscopic rehabilitation of iatrogenous Stensen-duct-acquired atresia in a patient with ring chromosome 21 syndrome and droolingPasquale Capaccio, Ignazio Alessandro Clemente, Paola Marchisio, et al.Clinical Dysmorphology|September 25, 2021
Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity?Laura Cazzaniga, Barbara Parma, Lisa Licini, et al.American Journal of Medical Genetics. Part A|January 6, 2005
Anomalies of the kidney and urinary tract are common in de Lange syndromeAngelo Selicorni, Cinzia Sforzini, Donatella Milani, et al.Orphanet Journal of Rare Diseases|November 23, 2017
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndromeLaura Avagliano, Paolo Grazioli, Milena Mariani, et al.American Journal of Medical Genetics. Part A|July 27, 2025
Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, et al.American Journal of Medical Genetics. Part A|March 4, 2022
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literatureErika Solansh Apuril Velgara, Milena Mariani, Annalaura Torella, et al.American Journal of Medical Genetics. Part A|November 6, 2023
Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectivesAlessia Carrer, Maria Giovanna Romaniello, Maria Letizia Calderara, et al.Pageof 19