Giuseppe Marangi

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 6

Top Topics

Mitochondrial Dna

Intellectual Disability

Cerebral Ischemia

High Throughput

Top Venues

This page only lists publications with an associated author ORCID identifier.

Publications

Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle, Federica Francesca L'Erario, Romina Venditti, Sabrina Maietta, Domenica Immacolata Battaglia, Ilaria Contaldo, Chiara Veredice, Marcella Zollino
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 . Genes 14 (2) (2023)
Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle, Federica Francesca L'Erario, Romina Venditti, Sabrina Maietta, Domenica Immacolata Battaglia, Ilaria Contaldo, Chiara Veredice, Marcella Zollino
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 . Genes 14 (2) (2023)
Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle, Federica Francesca L'Erario, Romina Venditti, Sabrina Maietta, Domenica Immacolata Battaglia, Ilaria Contaldo, Chiara Veredice, Marcella Zollino
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 . Genes 14 (2) (2023)
Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle, Federica Francesca L'Erario, Romina Venditti, Sabrina Maietta, Domenica Immacolata Battaglia, Ilaria Contaldo, Chiara Veredice, Marcella Zollino
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 . Genes 14 (2) (2023)
Serena Lattante, Giuseppe Marangi, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Marcella Zollino, Mario Sabatelli
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines. Genes 11 (10) (2020)
Stefania Bigoni, Giuseppe Marangi, Silvia Frangella, Arianna Panfili, Davide Ognibene, Gabriella Maria Squeo, Giuseppe Merla, Marcella Zollino
Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1. Genes 11 (10) (2020)