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)

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|Jun 26, 2026

<i>TRAPPC9</i>-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

|Jun 26, 2026

|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 <i>PBX1</i> 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

Diana Carli

Simona Cardaropoli

Giuseppe Reynolds

Stefania Massuras

Andrea Gazzin

Marta Calvo

Federico Rondot

Alessandro Mussa

Nicoletta Resta

Maria Clara Bonaglia

Frequent Collaborators

Diana Carli

Simona Cardaropoli

Giuseppe Reynolds

Stefania Massuras