Fulvio D'Abrusco
4PUBLICATIONS
19CO-AUTHORS
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Publications (4)
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|Sep 11, 2025
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.Fulvio D'Abrusco, Simone Gana, Enrico Alfei
|Jul 29, 2025
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.Davide Politano, Cecilia Mancini, Massimiliano Celario
|Dec 03, 2024
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates.Simone Gana, Fulvio D'Abrusco, Roberta Nicotra
|Jun 24, 2022
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.Romina Romaniello, Ludovica Pasca, Elena Panzeri
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Frequent Collaborators
4 joint publications
Enza Maria Valente
2 joint publications
Valentina Serpieri
2 joint publications
Enrico Silvio Bertini
1 joint publications
Elena Panzeri
1 joint publications
Maria Teresa Bassi
1 joint publications
Ginevra Zanni
1 joint publications
Renato Borgatti
1 joint publications
Filippo Arrigoni
1 joint publications
Davide Politano
1 joint publications
Massimiliano Celario
