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List of works by Elisa Biamino

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

scientific article published on January 2012

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire

scientific article published on 25 March 2015

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

scientific article published on 19 December 2016

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders

scientific article published on 26 February 2019

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

scientific article published on 25 April 2016

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