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Medical Genetics, Molecular Biology Department, University of Siena | 論文
- Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease
- Early-onset seizure variant of Rett syndrome : Definition of the clinical diagnostic criteria
- Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)
- Clinical and molecular characterization of Italian patients affected by Cohen syndrome
- Array comparative genomic hybridization in retinoma and retinoblastoma tissues
- Leukoencephalopathy in 21-β hydroxylase deficiency : Report of a family
- Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations