Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Thiart R"'
Autor:
Thiart, R. N. Susan
Publikováno v:
Wound Healing Southern Africa. 2016, Vol. 9 Issue 1, p35-40. 5p.
Autor:
Hoogendijk, C.F, Scholtz, C.L, Pimstone, S.M, Ehrenborg, E, Kastelein, J.J P, Defesche, J.C, Thiart, R, du Plessis, L, de Villiers, J.N.P, Zaahl, M.G, Delport, R, Rubinsztein, D.C, Raffel, L.J, Grim, C.E, Mediene-Benchekor, S, Amouyel, P, Brousseau, T, Steyn, K, Lombard, C.J, Hayden, M.R, Kotze, M.J ∗
Publikováno v:
In Molecular and Cellular Probes 2003 17(4):175-181
Publikováno v:
In Molecular and Cellular Probes December 2001 15(6):329-336
Autor:
Thiart, R, Varret, M, Lintott, CJ, Scott, RS, Loubser, O, du Plessis, L, de Villiers, JNP, Boileau, C, Kotze, MJ
Publikováno v:
In Molecular and Cellular Probes October 2000 14(5):299-304
Publikováno v:
In Molecular and Cellular Probes August 1999 13(4):257-260
Publikováno v:
South African Medical Journal; Vol 91, No 12 (2001); 1053-1059
Scopus-Elsevier
Europe PubMed Central
Scopus-Elsevier
Europe PubMed Central
Objective. Familial hypercholesterolaemia (FH) is a common genetic disease characterised by strikingly elevated. plasma cholesterol concentration, which can lead to premature coronary death if left untreated. In this study DNA diagnosis of FH, which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2a39d4c6007a1067182894345a093a0e
https://pubmed.ncbi.nlm.nih.gov/11845603
https://pubmed.ncbi.nlm.nih.gov/11845603
Publikováno v:
Europe PubMed Central
Scopus-Elsevier
Scopus-Elsevier
In this report on the outcome of the first prenatal diagnosis performed for familial hypercholesterolemia (FH) in a South African family, we aim to demonstrate the value of a population-directed screening strategy to identify FH patients in populatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e984c379a8502208accb27a8990ea6f8
https://pubmed.ncbi.nlm.nih.gov/11491306
https://pubmed.ncbi.nlm.nih.gov/11491306
Autor:
Varret, M, Rabes, Jp, SAINT JORE, B, Cenarro, A, Marinoni, J. C., Civeira, F, Devillers, M, Krempf, M, Coulon, M, Thiart, R, Kotze, Mj, Schmidt, H, Buzzi, J. C., Kostner, Gm, Bertolini, Stefano, Pocovi, M, Rosa, A, Farnier, M, Martinez, M, Junien, C, Boileau, C.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3710::79dcd8095b645c3abdbea9247603ad48
http://hdl.handle.net/11567/186181
http://hdl.handle.net/11567/186181
Autor:
Varret, M., Rabes, J.P., Thiart, R., Kotze, M.J., Baron, H., Cenarro, A., Descamps, O., Ebhardt, M., Hondelijn, J.C., Kostner, G.M., Miyake, Y., Pocovi, M., Schmidt, H., Schuster, H., Stuhrmann, M., Yamamura, T., Junien, C., Beroud, C., Boileau, C.
Publikováno v:
Nucleic Acids Research 26 (1): 248-252.
Mutations in the LDL receptor gene (LDLR) cause familial hypercholesterolemia (FH), a common autosomal dominant disorder. The LDLR database is a computerized tool that has been developed to provide tools to analyse the numerous mutations that have be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=mdc______med::0e505cfbbbc10bddeb38dce2f2496531
http://edoc.mdc-berlin.de/3573/
http://edoc.mdc-berlin.de/3573/
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