Emiliano Giardina

5PUBLICATIONS
39CO-AUTHORS
NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)PharmacogenomicsDiagnostic radiography
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Publications (5)

|Jun 25, 2025
New variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort.

Rosangela Ferese, Antonio Suppa, Rosa Campopiano

|Apr 29, 2024
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.

Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones

|Aug 11, 2023
Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level.

Domenica Megalizzi, Giulia Trastulli, Valerio Caputo

|Jul 23, 2020
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging.

G Giacomucci, M Monforte, J Diaz-Manera

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