Maria Luca

8PUBLICATIONS
30CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NanomedicinePhotonics, optoelectronics and optical communicationsNeonatologyNeurology and neuromuscular diseases
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Publications (8)

|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

|Apr 04, 2025
The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment.

Alice Dallan, Giuseppe Reynolds, Carlotta Canavese

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Frequent Collaborators

5 joint publications

Diana Carli

5 joint publications

Simona Cardaropoli

5 joint publications

Giuseppe Reynolds

3 joint publications

Stefania Massuras