Giuseppe Marangi
5PUBLICATIONS
16CO-AUTHORS
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Publications (5)
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|Apr 26, 2025
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.Federica Francesca L'Erario, Annalisa Gazzellone, Ilaria Contaldo
|Jan 08, 2025
Exploring the Role of CCNF Variants in Italian ALS Patients.Giulia Bisogni, Amelia Conte, Umberto Costantino
|Feb 25, 2023
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi
|Oct 14, 2020
Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1.Stefania Bigoni, Giuseppe Marangi, Silvia Frangella
|Sep 29, 2020
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.Serena Lattante, Giuseppe Marangi, Paolo Niccolò Doronzio
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Frequent Collaborators
4 joint publications
Marcella Zollino
2 joint publications
Serena Lattante
2 joint publications
Chiara Veredice
1 joint publications
Giuseppe Merla
1 joint publications
Marina Carapelle
1 joint publications
Giulia Bisogni
1 joint publications
Umberto Costantino
1 joint publications
Federica Francesca L'Erario
1 joint publications
Annalisa Gazzellone
1 joint publications
Clarissa Modafferi
