Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Keats, B J"'
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1993 Aug 01. 90(15), 7210-7214.
Externí odkaz:
https://www.jstor.org/stable/2362682
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1992 May . 89(10), 4598-4602.
Externí odkaz:
https://www.jstor.org/stable/2359376
A locus for an autosomal dominant form of spinocerebellar ataxia (SCA1) has been assigned to the short arm of chromosome 6 on the basis of linkage to the major histocompatibility system (HLA). In this study of a five-generation American black family,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8653a4184aaf5deb60ceb2ff8bcac166
https://europepmc.org/articles/PMC1683235/
https://europepmc.org/articles/PMC1683235/
Autor:
Sherman, S. L., Takaesu, N., Freeman, S. B., Grantham, M., Phillips, C., Blackston, R. D., Jacobs, P. A., Cockwell, A. E., Freeman, V., Uchida, I., Mikkelsen, M., Kurnit, D. M., Buraczynska, M., Keats, B. J. B., Hassold, T. J.
To assess the association between recombination and nondisjunction of chromosome 21, we analyzed cytogenetic and DNA markers in 104 trisomy 21 individuals and their parents. Our DNA marker studies of parental origin were informative in 100 cases, wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::228e576a2156078929ec1d14833a9991
https://europepmc.org/articles/PMC1683138/
https://europepmc.org/articles/PMC1683138/
Autor:
Varga, R., Avenarius, M. R., Kelley, P. M., Keats, B. J., Berlin, C. I., Hood, I. J., Monet, I. G., Brashears, S. M., Starr, A., Cohn, E. S., Smith, R. J. H., Kimberling, W. J.
Publikováno v:
Journal of Medical Genetics; Jul2006, Vol. 43 Issue 7, p576-581, 5p, 1 Diagram, 2 Charts
Publikováno v:
Journal of Medical Genetics; Nov2004, Vol. 41 Issue 11, p872-876, 5p, 2 Diagrams, 1 Chart
Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
Publikováno v:
Journal of Medical Genetics; Jan2003, Vol. 40 Issue 1, p45-50, 6p, 4 Diagrams, 4 Charts
Publikováno v:
Genome Research; October 2001, Vol. 11 Issue: 10 p1716-1724, 9p
Publikováno v:
American Journal of Ophthalmology; 2001, Vol. 131 Issue: 3 p355-358, 4p
Autor:
Scott, D. A., Drury, S., Sundstrom, R. A., Bishop, J., Swiderski, R. E., Carmi, R., Ramesh, A., Elbedour, K., Srisailapathy, Srikumari, R., C., Keats, B. J.
Publikováno v:
Gene; 2000, Vol. 246 Issue: 1 p265-274, 10p