Simone Martinelli
10PUBLICATIONS
34CO-AUTHORS

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Publications (10)
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|Oct 28, 2025
Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.Mikhail Savitsky, Yonika A Larasati, Gonzalo P Solis
|Oct 11, 2025
Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.Chloe Alexa McGhee, Julia R Plank, Luca Pannone
|Apr 13, 2024
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.Emilia Stellacci, Jennefer N Carter, Luca Pannone
|Feb 25, 2023
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease.Martina Di Rocco, Serena Galosi, Francesca C Follo
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Frequent Collaborators
3 joint publications
Marco Tartaglia
3 joint publications
Luca Pannone
2 joint publications
Vincenzo Leuzzi
2 joint publications
Alberto Martire
1 joint publications
Christina Lissewski
1 joint publications
Alfredo Brusco
1 joint publications
Cristina Andreoli
1 joint publications
Ziv Gan-Or
1 joint publications
Dirk J Lefeber
1 joint publications
Vincenzo Leuzzi