Maria Luca

9PUBLICATIONS
35CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)NanomedicinePhotonics, optoelectronics and optical communicationsNeonatology
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Publications (9)

|Sep 15, 2026
Stratified Use of Genetic Testing in Liver Disease Improves Diagnostic Yield and Clinical Impact.

|Jun 26, 2026
TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

|Jun 26, 2026
PPP1CB-Related Noonan Syndrome with Loose Anagen Hair: A Systematic Review.

|May 13, 2026
Alpelisib in PIK3CA-Related Overgrowth Spectrum (PROS): A Systematic Review of Real-World Evidence in over 100 Patients.

|Nov 27, 2025
Functional Characterization of a Novel PBX1 De Novo Missense Variant Identified in a Pediatric Patient with CAKUT.

Caterina Scolari, Angelo Corso Faini, Giulia Verra

|May 07, 2025
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.

Giuseppe Reynolds, Andrea Gazzin, Diana Carli

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Frequent Collaborators

6 joint publications

Diana Carli

5 joint publications

Simona Cardaropoli

5 joint publications

Giuseppe Reynolds

3 joint publications

Andrea Gazzin