Simona Cardaropoli

Turin, 10126, Italy

Last Updated: 09/26/2026

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Found 41 publications

TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

Journal: Genes

Published: May 10, 2026

PPP1CB-Related Noonan Syndrome with Loose Anagen Hair: A Systematic Review.

PPP1CB-Related Noonan Syndrome with Loose Anagen Hair: A Systematic Review.

Journal: Genes

Published: May 06, 2026

Alpelisib in PIK3CA-Related Overgrowth Spectrum (PROS): A Systematic Review of Real-World Evidence in over 100 Patients.

Alpelisib in PIK3CA-Related Overgrowth Spectrum (PROS): A Systematic Review of Real-World Evidence in over 100 Patients.

Journal: Cells

Published: March 30, 2026

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Journal: Human genetics

Published: November 21, 2025

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Journal: European journal of human genetics : EJHG

Published: September 23, 2025

Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.

Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.

Journal: Genes

Published: August 05, 2025

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.

Journal: International journal of molecular sciences

Published: December 31, 2024

Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition.

Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition.

Journal: Clinical genetics

Published: October 29, 2024

Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum.

Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum.

Journal: Cancers

Published: October 21, 2024

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.

Journal: Clinical genetics

Published: September 30, 2024

Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.

Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.

Journal: Life (Basel, Switzerland)

Published: April 23, 2024

Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood.

Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood.

Journal: The Journal of pediatrics

Published: April 14, 2024

Showing 1-12 of 41

Last Updated: 09/26/2026