Flavia Privitera

Pisa, Italy

Last Updated: 09/26/2026

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Found 14 publications

Ictal and Interictal Language Impairment in RBFOX1-Related Neurodevelopmental Disorder.

Ictal and Interictal Language Impairment in RBFOX1-Related Neurodevelopmental Disorder.

Journal: Pediatric neurology

Published: April 03, 2026

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

Interstitial 12p Deletion Syndrome: Revised Minimal Critical Region and Review of the Literature.

Interstitial 12p Deletion Syndrome: Revised Minimal Critical Region and Review of the Literature.

Journal: Genes

Published: November 06, 2025

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2.

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2.

Journal: Epilepsia

Published: January 20, 2025

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell

Published: August 19, 2024

Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL-Related Neurological Disorders.

Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL-Related Neurological Disorders.

Journal: International journal of molecular sciences

Published: August 09, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene.

Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene.

Journal: Stem cell research

Published: April 22, 2024

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature.

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature.

Journal: Genes

Published: April 06, 2024

SCAR32: Functional characterization and expansion of the clinical-genetic spectrum.

SCAR32: Functional characterization and expansion of the clinical-genetic spectrum.

Journal: Annals of clinical and translational neurology

Published: March 25, 2024

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.

Journal: Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999)

Published: February 07, 2022

Showing 1-12 of 14

Last Updated: 09/26/2026