Giulia Rosti
0000-0002-5949-803X
Genova
5 papers found
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A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs
A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability
Liver chemistry in new-onset Henoch-Schönlein syndrome
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