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1. A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. Issue 2 (5th May 2016)

2. A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype12. Issue 3 (22nd January 2013)

3. A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9. (4th October 2019)

4. Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients. Issue 2 (10th May 2016)

5. Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy. Issue 12 (21st November 2018)

6. Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients. Issue 1 (18th October 2022)

7. Cervical spine malformation in cornelia de lange syndrome: A report of three patients. Issue 6 (25th March 2014)

8. Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): Preliminary results. Issue 3 (7th February 2014)

9. Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum. Issue 9 (9th July 2020)

10. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. Issue 11 (2nd October 2013)