المؤلفون: Castellani, C., Cuppens, H., Macek, M., Cassiman, J.J., Kerem, E., Durie, P., Tullis, E., Assael, B.M., Bombieri, C., Brown, A., Casals, T., Claustres, M., Cutting, G.R., Dequeker, E., Dodge, J., Doull, I., Farrell, P., Ferec, C., Girodon, E., Johannesson, M., Kerem, B., Knowles, M., Munck, A., Pignatti, P.F., Radojkovic, D., Rizzotti, P., Schwarz, M., Stuhrmann, M., Tzetis, M., Zielenski, J., Elborn, J.S.

المصدر: Journal of Cystic Fibrosis - Official Journal of the European Cystic Fibrosis Society, 7(3)

مصطلحات موضوعية: Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, CFTR, Congenital Bilateral Absence Of The Vas Deferens, American College of Medical Genetics (http://www.acmg.net//AMTest/), ENaC, DGGE, Epithelial Sodi, Denaturing High Performance Liquid Chromatography, ACMG, CFGAC, Cystic Fibrosis Genetic Analysis Consortium (http://www.genet.sickkids.on.caTest), CBAVD, Denaturing Gradient Gel Electrophoresis, CF EQA, DIOS, Distal Intestinal Obstruction Syndrome, CF, Cystic Fibrosis External Quality Assessment, DHPLC

العلاقة: https://doi.org/10.17615/f0v9-2772Test; https://cdr.lib.unc.edu/downloads/9c67wv32k?file=thumbnailTest; https://cdr.lib.unc.edu/downloads/9c67wv32kTest

الإتاحة: https://doi.org/10.17615/f0v9-2772Test
https://cdr.lib.unc.edu/downloads/9c67wv32k?file=thumbnailTest
https://cdr.lib.unc.edu/downloads/9c67wv32kTest

المؤلفون: Estivill, X, Bancells, C, Ramos, C, Piazza, A, Carbonara, A, Mastella, G, Bonizzato, A, Castaldi, G, DAlcamo, E, Ferrari, M, Gasparini, P, Guanti, G, Leoni, GB, Pignatti, PF, Ronchetto, P, Seia, M, Torricelli, F, Goossens, M, ChevalierPorst, F, Bozon, D, SimonBouy, B, Feldmann, D, Elion, J, Kaplan, JC, Ferec, C, Claustres, M, Clavel, C, Puchelle, E, Lunardi, J, Mathieu, M, Scheffer, H, Halley, DJJ, vandenOuweland, AMW, Tijmensen, ASLN, Casals, T, Gimenez, FJ, Ramos, L, Beneyto, M, Benitez, J, Palacio, A, Tummler, B, Bauer, I, Meitinger, T, Claass, A, Lindner, M, Schroder, E, Stuhrmann, M, Cassiman, Jean-Jacques, Cuppens, Harry, Cochaux, P, Poncin, J, Messian, L, Baranov, VS, Ivaschenko, TE, Bakay, M, Bal, J, Witt, M, Kanavakis, M, Tzetis, M, Antoniadi, T, Lavinha, J, Pacheco, P, Duarte, A, Loureiro, P, Kalaydjieva, L, Angelicheva, D, Jordanova, A, Savov, A, Eiklid, K, Holmberg, L, Schaedel, C, Ozguc, M, Gocmen, A, Erdern, H, LiechtiGallati, S, Nemeti, M, Fekete, G, Klaassen, T, Schwarz, M, Schwartz, M, Macek, M, Krebsova, A, Vavrova, V, Kerem, B, Aveliovich, D, Ferak, V, Kadasi, L, Kayserova, H, Glavac, D, RavnikGlavac, M, Efremov, GD, CankiKlein, N, Kere, J

مصطلحات موضوعية: cystic fibrosis, cf, cftr, geographic distribution, mutations account, cftr gene, identification

العلاقة: Human mutation vol:10 issue:2 pages:135-154; https://lirias.kuleuven.be/handle/123456789/159647Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/159647Test

المؤلفون: Estivill, X, Bancells, C, Ramos, C, Piazza, A, Carbonara, A, Mastella, G, Bonizzato, A, Castaldi, G, DAlcamo, E, Ferrari, M, Gasparini, P, Guanti, G, Leoni, GB, Pignatti, PF, Ronchetto, P, Seia, M, Torricelli, F, Goossens, M, ChevalierPorst, F, Bozon, D, SimonBouy, B, Feldmann, D, Elion, J, Kaplan, JC, Ferec, C, Claustres, M, Clavel, C, Puchelle, E, Lunardi, J, Mathieu, M, Scheffer, H, Halley, DJJ, vandenOuweland, AMW, Tijmensen, ASLN, Casals, T, Gimenez, FJ, Ramos, L, Beneyto, M, Benitez, J, Palacio, A, Tummler, B, Bauer, I, Meitinger, T, Claass, A, Lindner, M, Schroder, E, Stuhrmann, M, Cassiman, J, Cuppens, H, Cochaux, P, Poncin, J, Messiaen, Ludwine, Baranov, VS, Ivaschenko, TE, Bakay, M, Bal, J, Witt, M, Kanavakis, M, Tzetis, M, Antoniadi, T, Lavinha, J, Pacheco, P, Duarte, A, Loureiro, P, Kalaydjieva, L, Angelicheva, D, Jordanova, A, Savov, A, Eiklid, K, Holmberg, L, Schaedel, C, Ozguc, M, Gocmen, A, Erdern, H, LiechtiGallati, S, Nemeti, M, Fekete, G, Klaassen, T, Schwarz, M, Schwartz, M, Macek, M, Krebsova, A, Vavrova, V, Kerem, B, Aveliovich, D, Ferak, V, Kadasi, L, Kayserova, H, Glavac, D, RavnikGlavac, M, Efremov, GD, CankiKlein, N, Kere, J

المصدر: HUMAN MUTATION ; ISSN: 1059-7794 ; ISSN: 1098-1004

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, MUTATIONS ACCOUNT, CFTR GENE, IDENTIFICATION, cystic fibrosis, CF, CFTR, geographic distribution

العلاقة: https://biblio.ugent.be/publication/8599053Test; http://hdl.handle.net/1854/LU-8599053Test; http://doi.org/10.1002Test/(SICI)1098-1004(1997)10:23.3.CO;2-P

الإتاحة: https://doi.org/10.1002Test/(SICI)1098-1004(1997)10:2<135::AID-HUMU6>3.3.CO;2-P
https://biblio.ugent.be/publication/8599053Test
http://hdl.handle.net/1854/LU-8599053Test

المؤلفون: Estivill, X, Bancells, C, Ramos, C, Piazza, A, Carbonara, A, Mastella, G, Bonizzato, A, Castaldi, G, DAlcamo, E, Ferrari, M, Gasparini, P, Guanti, G, Leoni, GB, Pignatti, PF, Ronchetto, P, Seia, M, Torricelli, F, Goossens, M, ChevalierPorst, F, Bozon, D, SimonBouy, B, Feldmann, D, Elion, J, Kaplan, JC, Ferec, C, Claustres, M, Clavel, C, Puchelle, E, Lunardi, J, Mathieu, M, Scheffer, H, Halley, DJJ, vandenOuweland, AMW, Tijmensen, ASLN, Casals, T, Gimenez, FJ, Ramos, L, Beneyto, M, Benitez, J, Palacio, A, Tummler, B, Bauer, I, Meitinger, T, Claass, A, Lindner, M, Schroder, E, Stuhrmann, M, Cassiman, Jean-Jacques, Cuppens, Harry, Cochaux, P, Poncin, J, Messian, L, Baranov, VS, Ivaschenko, TE, Bakay, M, Bal, J, Witt, M, Kanavakis, M, Tzetis, M, Antoniadi, T, Lavinha, J, Pacheco, P, Duarte, A, Loureiro, P, Kalaydjieva, L, Angelicheva, D, Jordanova, A, Savov, A, Eiklid, K, Holmberg, L, Schaedel, C, Ozguc, M, Gocmen, A, Erdern, H, LiechtiGallati, S, Nemeti, M, Fekete, G, Klaassen, T, Schwarz, M, Schwartz, M, Macek, M, Krebsova, A, Vavrova, V, Kerem, B, Aveliovich, D, Ferak, V, Kadasi, L, Kayserova, H, Glavac, D, RavnikGlavac, M, Efremov, GD, CankiKlein, N, Kere, J

مصطلحات موضوعية: cystic fibrosis, cf, cftr, geographic distribution, mutations account, cftr gene, identification, geo, archeo

العلاقة: https://lirias.kuleuven.be/handle/123456789/159647Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/159647Test