Simona Amenta
Rome, 00168, Italy
Last Updated: 09/26/2026
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Found 10 publications
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Journal: European journal of human genetics : EJHG
Published: September 20, 2022
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.
Journal: Genes
Published: May 15, 2022
Measuring the semantic priming effect across many languages.
Journal: Nature human behaviour
Published: December 12, 2021
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Journal: European heart journal
Published: June 21, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Journal: American journal of human genetics
Published: May 28, 2021
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?
Journal: European journal of medical genetics
Published: April 15, 2021
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Journal: Journal of medical genetics
Published: June 03, 2020
Decoding of emotional components in complex communicative situations (irony) and its relation to empathic abilities in male chronic alcoholics: an issue for treatment.
Journal: Alcoholism, clinical and experimental research
Published: November 16, 2011
Showing 1-10 of 10
Last Updated: 09/26/2026