Zobrazeno 1 - 10
of 433
pro vyhledávání: '"Casals T"'
Autor:
Castellani, C., Cuppens, H., Macek, M., Jr., 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.
Publikováno v:
In Journal of Cystic Fibrosis 2008 7(3):179-196
Autor:
Ramos, M.D., Trujillano, D., Olivar, R., Sotillo, F., Ossowski, S., Manzanares, J., Costa, J., Gartner, S., Oliva, C., Quintana, E., Gonzalez, M.I., Vazquez, C., Estivill, X., Casals, T.
Publikováno v:
Clinical Genetics; Vol 86
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=ec_fp7health::ab709abaaf7500ce98194e0a24c919b5
Autor:
Ramos, M.D., Trujillano, D., Olivar, R., Sotillo, F., Ossowski, S., Manzanares, J., Costa, J., Gartner, S., Oliva, C., Quintana, E., Gonzalez, M.I., Vazquez, C., Estivill, X., Casals, T.
Publikováno v:
Clinical Genetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=fp7_health__::8a74ae014206784feaee294892397a1d
Autor:
Argudo-Ramírez, A., López, R.M., Pajares, S., De Aledo-Castillo, J.M. González, Delgado, G., Ramón, E., Gartner, S., Cols, M., Asensio, O., Bádenas, C., Casals, T., Marín-Soria, J.L.
Publikováno v:
In Clinica Chimica Acta June 2019 493 Supplement 1:S597-S598
Autor:
P. Carbonell, Juan-Fita Mj, Casals T, G. Glover, Mondéjar-López P, González-Gallego I, Moya-Quiles Mr, M. Sánchez-Solís, Egea-Mellado Jm, Fernández-Sánchez A, Pastor-Vivero
Publikováno v:
Clinical Genetics. 76:577-579
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10ae385c00a1e78a726ee9dff56bfb41
https://doi.org/10.1111/j.1399-0004.2009.01252.x
https://doi.org/10.1111/j.1399-0004.2009.01252.x
Autor:
Steiner, B, Rosendahl, J, Witt, H, Teich, N, Keim, V, Schulz, HU, Pfutzer, R, Lohr, M, Gress, TM, Nickel, R, Landt, O, Koudova, M, Macek, M, Farre, A, Casals, T, Desax, MC, Gallati, S, Gomez-Lira, M, Audrezet, MP, Ferec, C, des Georges, M, Claustres, M, Truninger, K
Publikováno v:
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::645e6c9bff3f438b8ebfc6e7a8fd2dce
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11563
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11563
It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::20037534120904ca907921dc53136e40
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3112832
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3112832
An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator ( CFTR) gene is found in similar to 10% of individuals in the general population. When found in trans with a severe CFTR mutation, 5T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::d5e4b0bdf574645fb907eb132dff93f8
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3084818
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3084818
Autor:
Pagani, F Stuani, C Tzetis, M Kanavakis, E Efthymiadou, A Doudounakis, S Casals, T Baralle, FE
The increase in genome scanning data, derived from clinical genetics practice, is producing a wealth of information on human sequence variability. The critical issue is to identify if a given nucleotide change results in a benign polymorphism or a di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::193f3fa8db9dd75d9413e3ef76033936
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3083705
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3083705
Autor:
OCKENGA, J, STUHRMANN, M, MANNS, M, ESTIVILL, X, CASALS, T, MALATS, N, PORTA, M, GUARNER, L, REAL, F
Editor,—In up to 30% of patients with idiopathic pancreatitis (IP) a mutation of at least one or both alleles of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can be identified.1-3 The study by Malats et al ( (2001) Gut 48:70
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c67ab76f7fc174c6397158290010a7ef
https://europepmc.org/articles/PMC1728381/
https://europepmc.org/articles/PMC1728381/