Resultats de la cerca - Frants, R. R.
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Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. per Bakker, E, Van der Wielen, M J, Voorhoeve, E, Ippel, P F, Padberg, G W, Frants, R R, Wijmenga, C
Publicat 1996Text -
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The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finlan... per Koivisto, U M, Turtola, H, Aalto-Setälä, K, Top, B, Frants, R R, Kovanen, P T, Syvänen, A C, Kontula, K
Publicat 1992Text -
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Familial dysbetalipoproteinemia associated with apolipoprotein E3-Leiden in an extended multigeneration pedigree. per de Knijff, P, van den Maagdenberg, A M, Stalenhoef, A F, Leuven, J A, Demacker, P N, Kuyt, L P, Frants, R R, Havekes, L M
Publicat 1991Text -
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Modulation of very low density lipoprotein production and clearance contributes to age- and gender- dependent hyperlipoproteinemia in apolipoprotein E3-Leiden transgenic mice. per van Vlijmen, B J, van 't Hof, H B, Mol, M J, van der Boom, H, van der Zee, A, Frants, R R, Hofker, M H, Havekes, L M
Publicat 1996Text -
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Variable expression of familial dysbetalipoproteinemia in apolipoprotein E*2 (Lys146-->Gln) Allele carriers. per de Knijff, P, van den Maagdenberg, A M, Boomsma, D I, Stalenhoef, A F, Smelt, A H, Kastelein, J J, Marais, A D, Frants, R R, Havekes, L M
Publicat 1994Text -
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Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region. per Datson, N. A., Semina, E., van Staalduinen, A. A., Dauwerse, H. G., Meershoek, E. J., Heus, J. J., Frants, R. R., den Dunnen, J. T., Murray, J. C., van Ommen, G. J.
Publicat 1996Text -
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Gene expression profiling identifies tumour markers potentially playing a role in uveal melanoma development per Zuidervaart, W, van der Velden, P A, Hurks, M H, van Nieuwpoort, F A, Out-Luiting, C J J, Singh, A D, Frants, R R, Jager, M J, Gruis, N A
Publicat 2003Text -
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Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. per Semina, E. V., Datson, N. A., Leysens, N. J., Zabel, B. U., Carey, J. C., Bell, G. I., Bitoun, P., Lindgren, C., Stevenson, T., Frants, R. R., van Ommen, G., Murray, J. C.
Publicat 1996Text