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List of works by Elisabetta Tabolacci

Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene

scientific article published on 09 January 2020

DNA Methylation in the Diagnosis of Monogenic Diseases

scientific article published on 26 March 2020

Epigenetic Modifications of the FMR1 Gene ⬇️

scientific article published on January 1, 2013

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization

scientific article published on 13 December 2020

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation

scientific article published on 05 December 2019

Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype

scientific article published in 2022

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families

scientific article published on 26 February 2020

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