8 results on '"Quinzani S"'
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2. Characterization of two families with Arterial Tortuosity Syndrome with homozygosity for a novel and a recurrent missense mutations in SLC2A10 gene
3. Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa
4. Further delineation of Loeys-Dietz syndrome type IV in a family with mild vascular involvement and a TGFB2 splicing mutation
5. Molecular characterization and transcriptome-wide expression profiling of two patients with spondyloepimetaphyseal dysplasia with joint laxity type 1
6. Le sindromi di Ehlers-Danlos
7. Characterisation of a large duplication in the COL5A1 gene in a classic Ehlers-Danlos syndrome patient
8. Clinical and molecular characterization of a family with LDS type IV: identification of the first TGFB2 splice mutation
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