Sara Bargiacchi
5PUBLICATIONS
55CO-AUTHORS
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Publications (5)
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|Mar 05, 2025
Genotype-phenotype relationship in RDH12 retinopathy: a perspective from a pediatric age group.Giacomo Maria Bacci, Pina Fortunato, Silvia Cestaro
|Jan 07, 2025
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.Ogul E Uner, Radwa Elsharawi, Margaret Reynolds
|Aug 30, 2024
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.Alessandro Barbato, Giulia Gori, Michele Sacchini
|Apr 09, 2024
Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.Elisa Marziali, Samuela Landini, Erika Fiorentini
|Dec 18, 2020
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.Aldesia Provenzano, Andrea La Barbera, Mirko Scagnet
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Frequent Collaborators
3 joint publications
Giacomo Maria Bacci
3 joint publications
Rosangela Artuso
3 joint publications
Viviana Palazzo
2 joint publications
Lucia Tiberi
2 joint publications
Roberto Caputo
2 joint publications
Pina Fortunato
2 joint publications
Elisa Marziali
1 joint publications
Andrea La Barbera
1 joint publications
Mirko Scagnet
1 joint publications
Ada Kura
