Federico Rondot

Turin, 10126, Italy

Last Updated: 09/26/2026

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Found 9 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

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

Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders.

Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders.

Journal: Scientific reports

Published: December 16, 2025

CASP8 and CASP3 mRNA Expression in Autoimmune Lymphoproliferative Syndrome (ALPS) and Chronic Immune Thrombocytopenia (ITP).

CASP8 and CASP3 mRNA Expression in Autoimmune Lymphoproliferative Syndrome (ALPS) and Chronic Immune Thrombocytopenia (ITP).

Journal: Genes

Published: December 01, 2025

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

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

Showing 1-9 of 9

Last Updated: 09/26/2026