Camilla Meossi

Via Dei Giacinti 2
Pisa, 56128, Italy

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 21 publications

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants.

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants.

Journal: Journal of neurology
Published: June 15, 2026

Electroclinical features of epilepsy in AUTS2-related syndrome: case description and narrative review.

Electroclinical features of epilepsy in AUTS2-related syndrome: case description and narrative review.

Journal: Seizure
Published: May 18, 2026

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

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.

Journal: Clinical genetics
Published: August 06, 2025

Keeping up the beat of Kleefstra syndrome.

Keeping up the beat of Kleefstra syndrome.

Journal: Italian journal of pediatrics
Published: May 14, 2025

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

Journal: Italian journal of pediatrics
Published: May 07, 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

Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1: An Italian Cohort Study.

Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1: An Italian Cohort Study.

Journal: Genes
Published: January 15, 2025

Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes.

Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes.

Journal: Clinical genetics
Published: December 29, 2024

Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series.

Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series.

Journal: Epilepsia open
Published: December 20, 2024

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

Journal: European journal of human genetics : EJHG
Published: December 05, 2024

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

Journal: Genes
Published: October 11, 2024
Showing 1-12 of 21

Last Updated: 09/26/2026