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Giulia Rosti
Giulia Rosti
University of Genoa
Genetics
Biology
Gene
Copy-number variation
Missense mutation
3
Papers
10
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0
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A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.
2021
Molecular Genetics & Genomic Medicine
Federica Ruscitti
Lucia Trevisan
Giulia Rosti
Fabio Gotta
Annalia Cianflone
Alessandro Geroldi
Paola Origone
Anna Pichiecchio
Simona Viglio
Maria Iascone
Paola Mandich
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Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
2021
Frontiers in Genetics
Martina Servetti
Livia Pisciotta
Elisa Tassano
Maria Cerminara
Lino Nobili
Silvia Boeri
Giulia Rosti
Margherita Lerone
Maria Teresa Divizia
Patrizia Ronchetto
Aldamaria Puliti
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Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability
2018
European Journal of Medical Genetics
Giulia Rosti
Elisa Tassano
Simone Bossi
Maria Teresa Divizia
Patrizia Ronchetto
Martina Servetti
Margherita Lerone
Livia Pisciotta
Maria Margherita Mancardi
Edvige Veneselli
Aldamaria Puliti
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Citations (10)
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