5 results on '"di Stefano, Cristina"'
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2. Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
3. The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach
4. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
5. Partial duplication of the long arm of chromosome 15: Confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome
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