Maria Luca

Turin, 10126, Italy

Last Updated: 09/26/2026

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Found 18 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

Functional Characterization of a Novel PBX1 De Novo Missense Variant Identified in a Pediatric Patient with CAKUT.

Functional Characterization of a Novel PBX1 De Novo Missense Variant Identified in a Pediatric Patient with CAKUT.

Journal: Genes

Published: October 04, 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

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

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

Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease.

Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease.

Journal: Pediatric nephrology (Berlin, Germany)

Published: July 20, 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

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

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Journal: European journal of human genetics : EJHG

Published: January 26, 2024

Showing 1-12 of 18

Last Updated: 09/26/2026