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5 results on '"Tania Giangregorio"'

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1. Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency

2. A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly

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3. ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia

4. MYH9 -Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder

5. A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman