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Medical Genetics Department Of Molecular Biology University Of Siena | 論文
- Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease
- MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients : hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
- 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
- A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita
- Investigation of modifier genes within copy number variations in Rett syndrome
- p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma