17 results on '"D'Urso, Michele"'
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2. Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes.
3. Multiple pathogenic and benigngenomic rearrangements occur at a 35 kb duplication involving the NEMOandLAGE2 genes.
4. A recurrent deletion in the ubiquitously expressed NEMO (IKK- γ ) gene accounts for the vast majority of incontinentia pigmenti mutations.
5. Severe obesity in haemodialysis: the utility of bioimpedance vector analysis.
6. Long-Range Sequence Analysis in Xq28: Thirteen Known and Six Candidate Genes in 219.4 kb of High GC DNA Between the RCP/GCP and G6PD Loci.
7. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.
8. YAC-assisted cloning of transcribed sequences from the human chromosome 3p21 region.
9. Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes.
10. An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome.
11. Isolation of human glucose-6-pbosphate debydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region.
12. Stability of YACs Containing Ribosomal or RCP/GCP Locus DNA in Wild-type S. cerevisiae and RAD Mutant Strains.
13. PCR-based immortalization and screening of hierarchical pools of cDNAs.
14. Locations and contexts of sequences that hybridize to poly(dG-dT).(dC-dA) in mammalian ribosomal DNAs and two X-linked genes.
15. Differential Expression Pattern of XqPAR-Linked Genes SYBL1 and IL9R Correlates with the Structure and Evolution of the Region.
16. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.
17. Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5′ non-coding region.
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