Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Kuffardjieva, A."'
Autor:
L. Osborne, G. Santis, M. Schwarz, K. Klinger, T. Dörk, I. McIntosh, M. Schwartz, V. Nunes, M. Macek, J. Reiss, W. E. Highsmith, R. McMahon, G. Novelli, N. Malik, J. Bürger, M. Anvret, A. Wallace, C. Williams, C. Mathew, R. Rozen, C. Graham, P. Gasparini, J. Bal, J. J. Cassiman, A. Balassopoulou, L. Davidow, S. Raskin, L. Kalaydjieva, B. Kerem, S. Richards, B. Simon-Bouy, M. Super, U. Wulbrand, M. Keston, X. Estivill, V. Vavrova, K. J. Friedman, D. Barton, B. Dallapiccola, M. Stuhrmann, F. Beards, A. J. M. Hill, P. F. Pignatti, H. Cuppens, D. Angelicheva, B. Tümmler, D. J. H. Brock, T. Casals, J. Schmidtke, A. C. Magee, A. Bonizzato, C. De Boeck, A. Kuffardjieva, M. Hodson, R. A. Knight
Publikováno v:
Human Genetics. 89:653-658
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=doi_dedup___::b0636d0ccb77e88d8d73c27b2dd64b1c
https://doi.org/10.1007/bf00221957
https://doi.org/10.1007/bf00221957
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:
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
Akademický článek
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Autor:
de Vries, B.B.A., Severijnen, L.-A., Jacobs, A., Olmer, R., Halley, D.J.J., Oostra, B.A., Willemsen, R.
Publikováno v:
Journal of Medical Genetics; Jul2003, Vol. 40 Issue 7, p535-539, 5p, 8 Black and White Photographs, 1 Diagram, 1 Chart
Publikováno v:
Journal of Medical Genetics; Jul2003, Vol. 40 Issue 7, p530-535, 6p, 2 Charts
Autor:
Kerem, Eitan, Kerem, Batsheva
Publikováno v:
Pediatric Pulmonology; Dec1996, Vol. 22 Issue 6, p387-395, 9p