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List of works by Maura Masciadri

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

scientific article

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

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