Zobrazeno 1 - 10
of 305
pro vyhledávání: '"Keston, M."'
Publikováno v:
BMJ: British Medical Journal, 1991 Mar 01. 302(6776), 570-571.
Externí odkaz:
https://www.jstor.org/stable/29710675
Autor:
Hamosh A, Tm, King, Bj, Rosenstein, Corey M, Levison H, Durie P, Lc, Tsui, McIntosh I, Keston M, Dj, Brock
Publikováno v:
Europe PubMed Central
The glycine-to-aspartic acid missense mutation at codon 551 (G551D), which is within the first nucleotide-binding fold of the cystic fibrosis transmembrane conductance regulator (CFTR), is the third most common cystic fibrosis (CF) mutation, with a w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::322f328dca35c305ada13cae7e1c631e
https://pubmed.ncbi.nlm.nih.gov/1379413
https://pubmed.ncbi.nlm.nih.gov/1379413
The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America in order to estimate its frequency and to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::c3b373f9b1878e7bab642cc836f7577b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3045136
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3045136
Autor:
McDonald, Eli Fritz1,2 (AUTHOR), Oliver, Kathryn E.3,4 (AUTHOR), Schlebach, Jonathan P.5 (AUTHOR), Meiler, Jens1,2,6,7 (AUTHOR) jens@meilerlab.org, Plate, Lars1,8,9 (AUTHOR) jens@meilerlab.org
Publikováno v:
PLoS ONE. 1/25/2024, Vol. 19 Issue 1, p1-20. 20p.
Autor:
Keston, M, Brocklehurst, J C
Publikováno v:
Age & Ageing; Jan1974, Vol. 3 Issue 1, p54-58, 5p
Publikováno v:
Journal of Medical Genetics; Nov1991, Vol. 28 Issue 11, p757-764, 8p, 7 Black and White Photographs
Publikováno v:
Journal of Medical Genetics; Mar1987, Vol. 24 Issue 3, p148-151, 4p, 2 Black and White Photographs, 1 Diagram
Autor:
Osborne, L., Santis, G., Schwarz, M., Klinger, K., Dörk, T., McIntosh, I., Schwartz, M., Nunes, V., Macek, M., Reiss, J., Highsmith, W. E., McMahon, R., Novelli, G., Malik, N., Bürger, J., Anvret, M., Wallace, A., Williams, C., Mathew, C., Rozen, R., Graham, C., Gasparini, P., Bal, J., Cassiman, J. J., Balassopoulou, A., Davidow, L., Raskin, S., Kalaydjieva, L., Kerem, B., Richards, S., Simon-Bouy, B., Super, M., Wulbrand, U., Keston, M., Estivill, X., Vavrova, V., Friedman, K. J., Barton, D., Dallapiccola, B., Stuhrmann, M., Beards, F., Hill, A. J. M., Pignatti, P. F., Cuppens, H., Angelicheva, D., Tümmler, B., Brock, D. J. H., Casals, T., Macek, M., Schmidtke, J., Magee, A. C., Bonizzato, A., Boeck, C., Kuffardjieva, A., Hodson, M., Knight, R. A.
Publikováno v:
Human Genetics; August 1992, Vol. 89 Issue: 6 p653-658, 6p
Publikováno v:
Annals of Clinical Biochemistry; March 1992, Vol. 29 Issue: 2 p145-152, 8p
Autor:
Tsipouras, P., Del Mastro, R., Sarfarazi, M., Lee, B., Vitale, E., Child, A. H., Godfrey, M., Devereux, R. B., Hewett, D., Steinmann, B., Viljoen, D., Sykes, B. C., Kilpatrick, M., Ramirez, F., Farndon, P. A., Boxer, M., Brock, D. J. H., Caroline Hayward, Keston, M., Milewicz, D. M., Byers, P. H., Superti-Furga, A., Ramesar, R. S., Davee, M. A., Weaver, D. D., Wainer, S., Kramer-Fox, R.
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::88d8a70f51f07b351cd9c5f0054f2730
http://www.scopus.com/inward/record.url?eid=2-s2.0-0026510275&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0026510275&partnerID=MN8TOARS