31 results on '"Rocchi M"'
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2. Toward a multicolor chromosome bar code for the entire human karyotype by fluorescence in situ hybridization
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3. Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations
4. X/Y translocation in a family with Leri-Weill dyschondrosteosis
5. Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction
6. Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study
7. Nucleolus organizer and N-band distribution in morphologic and fluorescence variants of human chromosomes
8. Cytologic demonstration of differential activity of rRNA gene clusters in different human tissues
9. X pentasomy: A case and review
10. Nucleolus organizer and satellite association in a variant D-group chromosome
11. Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and α1-acid glycoprotein to chromosome 9
12. Relationship between the number and function of human ribosomal genes
13. Impairment of capping in lymphoblastoid cell lines of Duchenne patients indicates an intrinsic cellular defect
14. Assignment of human coagulation factor XII (fXII) to chromosome 5 by cDNA hybridization to DNA from somatic cell hybrids
15. Relationship between the number and function of human ribosomal genes.
16. Cytologic demonstration of differential activity of rRNA gene clusters in different human tissues.
17. Nucleolus organizer and satellite association in a variant D-group chromosome.
18. Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and ?1-acid glycoprotein to chromosome 9
19. Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?
20. Reciprocal translocations: a trap for cytogenetists?
21. Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.
22. AcroM fluorescent in situ hybridization analyses of marker chromosomes.
23. A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH).
24. Analysis of the transcriptional activity of amplified genes in tumour cells by fluorescence in situ hybridization.
25. A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2.
26. A novel mechanism for the origin of supernumerary marker chromosomes.
27. An alphoid DNA sequence conserved in all human and great ape chromosomes: evidence for ancient centromeric sequences at human chromosomal regions 2q21 and 9q13.
28. Assignment of the gene for human tenascin to the region q32-q34 of chromosome 9.
29. t(9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring.
30. Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees.
31. Assignment of human aldolase C gene to chromosome 17, region cen----q21.1.
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