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List of works by Giorgia Mancano

Cardio-facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations.

scientific article published in June 2010

Defining the role of the CGGBP1 protein in FMR1 gene expression.

scientific article published on 26 August 2015

Genetic counseling during COVID-19 pandemic: Tuscany experience

scientific article published on 03 August 2020

Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells.

scientific article published on 24 March 2016

Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family

scientific article published on 11 October 2013

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

scientific article

Role of CTCF protein in regulating FMR1 locus transcription

scientific article (publication date: 2013)

[Clinical and molecular study of the Noonan syndrome]

scientific article published on 01 December 2012

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