Giuseppe Reynolds

Turin, 10126, Italy

Last Updated: 09/26/2026

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Found 12 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

VPS35L-related Ritscher-Schinzel syndrome: Expanding genotype-phenotype correlations.

VPS35L-related Ritscher-Schinzel syndrome: Expanding genotype-phenotype correlations.

Journal: European journal of medical genetics

Published: January 15, 2026

DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.

DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.

Journal: American journal of medical genetics. Part A

Published: October 02, 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

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth.

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth.

Journal: Journal of medical genetics

Published: September 03, 2024

The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment.

The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment.

Journal: Orphanet journal of rare diseases

Published: April 26, 2024

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).

Journal: European journal of human genetics : EJHG

Published: January 30, 2023

Showing 1-12 of 12

Last Updated: 09/26/2026