Carmen Rosano
0009-0008-7146-4204
6 papers found
Refreshing results…
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity
RASopathies and hemostatic abnormalities: key role of platelet dysfunction
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
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