Zobrazeno 1 - 10
of 210
pro vyhledávání: '"Keats, B"'
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
Autor:
Keats, B
The UAE-Oman mountains are a ~700 km long mountain belt located on the north-eastern margin of the Arabian plate, extending from the Musandam peninsula in the north, through the United Arab Emirates (UAE) and Oman to terminate at the eastern tip of A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1064::cc8a0b1b788e0fb191689e53b2f1e997
https://ora.ox.ac.uk/objects/uuid:f974f558-3748-4014-849a-462af8577999
https://ora.ox.ac.uk/objects/uuid:f974f558-3748-4014-849a-462af8577999
Akademický článek
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Autor:
Pollard L., Sharma R., Gomez M., Shah S., Delatycki M., Pianese L., Monticelli A., Keats B., Bidichandani S.
Publikováno v:
Nucleic acids research 39 (2004): 5962–5971.
info:cnr-pdr/source/autori:Pollard L., Sharma R., Gomez M., Shah S., Delatycki M., Pianese L., Monticelli A., Keats B. and Bidichandani S./titolo:Replication mediated instability of the GAA triplet repeat mutation in Friedreich ataxia/doi:/rivista:Nucleic acids research/anno:2004/pagina_da:5962/pagina_a:5971/intervallo_pagine:5962–5971/volume:39
info:cnr-pdr/source/autori:Pollard L., Sharma R., Gomez M., Shah S., Delatycki M., Pianese L., Monticelli A., Keats B. and Bidichandani S./titolo:Replication mediated instability of the GAA triplet repeat mutation in Friedreich ataxia/doi:/rivista:Nucleic acids research/anno:2004/pagina_da:5962/pagina_a:5971/intervallo_pagine:5962–5971/volume:39
Friedreich ataxia is caused by the expansion of a polymorphic and unstable GAA triplet repeat in the FRDA gene, but the mechanisms for its instability are poorly understood. Replication of (GAA*TTC)n sequences (9-105 triplets) in plasmids propagated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::c816747d2f50a48568e54b1ca962972c
https://publications.cnr.it/doc/21012
https://publications.cnr.it/doc/21012
Autor:
Starr, A, Michalewski, HJ, Zeng, FG, Fujikawa-Brooks, S, Linthicum, F, Kim, CS, Winnier, D, Keats, B
Publikováno v:
Starr, A; Michalewski, HJ; Zeng, FG; Fujikawa-Brooks, S; Linthicum, F; Kim, CS; et al.(2003). Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145→Ser). Brain, 126(7), 1604-1619. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/8ps4v7s6
We studied a family with hereditary sensory motor neuropathy and deafness accompanying a missense mutation in the MPZ gene. Pathological examination of the cochlea in one of the family members revealed marked loss of auditory ganglion cells and centr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::e66434208d38f9c466c3c1e8438ed121
http://www.escholarship.org/uc/item/8ps4v7s6
http://www.escholarship.org/uc/item/8ps4v7s6
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/
Akademický článek
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Akademický článek
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