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List of works by Silvestra Amata

Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G-->A mutation: role of the beta-globin gene haplotype.

scientific article published in October 2003

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

scientific article

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients

scientific article published on 21 January 2010

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

scientific article

Identification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay

scientific article published on 01 December 2005

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

article

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

scientific article published on 8 October 2013

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