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List of works by Anna Cereda

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

scientific article published on 22 January 2013

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

scientific article published on 10 May 2016

Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy

scientific article published on 21 November 2018

Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

scientific article

Cohesin complex-associated holoprosencephaly

scientific article published on 01 September 2019

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

scientific article

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia ⬇️

scientific article published on December 17, 2011

Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing

scientific article published on 31 May 2019

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

scientific article published on 3 April 2013

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

scientific article published on 22 February 2012

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

scientific article published on 8 January 2013

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

scientific article published on 22 April 2014

Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series

scientific article published on 4 May 2016

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