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List of works by Eleonora Di Gregorio

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

scientific journal article

ELOVL5 mutations cause spinocerebellar ataxia 38

scientific article

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

scientific article published on 19 December 2016

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

scientific article published on 17 February 2018

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.

scientific article

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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