Elisa Bettella

Padova, 35127, Italy

Last Updated: 09/26/2026

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Found 16 publications

Neurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies.

Neurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies.

Journal: International journal of molecular sciences

Published: December 20, 2024

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Journal: Human genetics

Published: December 16, 2024

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.

Journal: International journal of molecular sciences

Published: November 08, 2024

Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait.

Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait.

Journal: Journal of intellectual disability research : JIDR

Published: August 08, 2024

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Journal: European journal of human genetics : EJHG

Published: April 08, 2022

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy".

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy".

Journal: Frontiers in neurology

Published: August 10, 2020

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Journal: Human mutation

Published: May 14, 2020

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).

Journal: Genes

Published: February 29, 2020

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.

Journal: Journal of human genetics

Published: February 17, 2020

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Journal: Human mutation

Published: January 11, 2019

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Journal: Nature communications

Published: November 16, 2018

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: February 09, 2018

Showing 1-12 of 16

Last Updated: 09/26/2026