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Giacomina Ricciardi

4PUBLICATIONS
44CO-AUTHORS
Neurology and neuromuscular diseasesInfant and child healthDevelopmental genetics (incl. sex determination)
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Journal

Publications (4)

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|Dec 26, 2025
DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

Filippo Manti, Giacomina Ricciardi, Francesca Nardecchia

|Nov 27, 2025
Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study.

Mario Mastrangelo, Claudia Carducci, Filippo Manti

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

Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri

|Nov 11, 2022
Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review.

Giacomina Ricciardi, Luca Cammisa, Rossella Bove

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Frequent Collaborators

2 joint publications

Francesco Pisani

2 joint publications

Vincenzo Leuzzi

2 joint publications

Filippo Manti

2 joint publications

Claudia Carducci

2 joint publications

Mario Mastrangelo

1 joint publications

Pasquale Di Letto

1 joint publications

Chiara De Leonibus

1 joint publications

Mariateresa Zanobio

1 joint publications

Margherita Scarpato

1 joint publications

Sarah Iffat Rahman

Frequent Collaborators

2 joint publications

Francesco Pisani

2 joint publications

Vincenzo Leuzzi

2 joint publications

Filippo Manti

2 joint publications

Claudia Carducci

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