29 results on '"Jacobs, Patricia"'
Search Results
2. Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)
3. Investigation of the origins of human autosomal inversions
4. Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study
5. Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study
6. Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man
7. Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain
8. Functional disomy resulting from duplications of distal Xq in four unrelated patients
9. A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities
10. Characterisation of interstitial duplications and triplications of chromosome 15q11–q13
11. Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation
12. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women
13. Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population
14. Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns
15. Leukaemia and transient leukaemia in Down syndrome
16. Cytogenetic studies of chromosome aberrations
17. Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia
18. A cytogenetic survey of an institution for the mentally retarded: III. Q-band chromosome heteromorphisms
19. A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome
20. Analysis of nucleolar organizing regions in parents of trisomic spontaneous abortions
21. Fragile (X) expression: Relationship to the cell cycle
22. Inversions and other unusual heteromorphisms detected by C-banding
23. A cytogenetic survey of an institution for the mentally retarded: II. C-band chromosome heteromorphisms
24. The effect of caffeine on fragile X expression
25. A cytogenetic study of a population of retarded females with special reference to the fragile(X) syndrome
26. Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)
27. Further segregation analysis of the fragile X syndrome with special reference to transmitting males
28. Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.
29. Chromosome mutations: Frequency at birth in humans
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