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List of works by Ilaria Catusi

13q mosaic deletion including associated to mild phenotype and no cancer outcome - case report and review of the literature

scientific article published on 19 September 2018

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature

scientific article published on 18 August 2015

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.

scientific article published on 22 November 2017

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome

scientific article published on 11 November 2020

Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism

scientific article published on 08 March 2019

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate

scientific article published on 18 December 2019

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

scientific article published on 30 May 2018

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