List of works by Chiara Castronovo

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

scientific article published on 22 January 2013

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

scientific article published on 21 July 2017

Complexde novochromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature

scientific article published on 22 October 2014

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

scientific article published on 2 May 2014

The natural history of Cri du Chat Syndrome. A report from the Italian Register

scientific article published on 13 January 2006

[The Cri du Chat syndrome: a study on the quality of care]

scientific article published on 01 August 2012

Paulina is supported by:

About Paulina

Help