Valeria Capra

27PUBLICATIONS
233CO-AUTHORS
Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)NeonatologyNeurogeneticsMedical microbiology not elsewhere classified
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Publications (27)

|Oct 07, 2026
Skipping of Exon 38 in Neurofibromatosis Type 1 Gene Is Not a Pathogenic Variant.

|Aug 27, 2026
Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.

|May 27, 2026
Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.

|Apr 09, 2026
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

Amber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier

|Dec 31, 2025
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.

Nami Altin, Kamel Mamchaoui, Jessica Ohana

|Oct 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri

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Frequent Collaborators

10 joint publications

Marcello Scala

9 joint publications

Mariasavina Severino

7 joint publications

Federico Zara

7 joint publications

Andrea Rossi