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Results: 1-22 |
Results: 22

Authors: Hoogenraad, CC Akhmanova, A Howell, SA Dortland, BR De Zeeuw, CI Willemsen, R Visser, P Grosveld, F Galjart, N
Citation: Cc. Hoogenraad et al., Mammalian Golgi-associated Bicaudal-D2 functions in the dynein-dynactin pathway by interacting with these complexes, EMBO J, 20(15), 2001, pp. 4041-4054

Authors: Rosso, SM Kamphorst, W de Graaf, B Willemsen, R Ravid, R Niermeijer, MF Spillantini, MG Heutink, P van Swieten, JC
Citation: Sm. Rosso et al., Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q2l-22, BRAIN, 124, 2001, pp. 1948-1957

Authors: Kooy, RF Willemsen, R Oostra, BA
Citation: Rf. Kooy et al., Fragile X syndrome at the turn of the century, MOL MED TOD, 6(5), 2000, pp. 193-198

Authors: Nauta, J Goedbloed, MA Van Herck, H Hesselink, DA Visser, P Willemsen, R Van Dokkum, RPE Wright, CJ Guay-Woodford, LM
Citation: J. Nauta et al., New rat model that phenotypically resembles autosomal recessive polycystickidney disease, J AM S NEPH, 11(12), 2000, pp. 2272-2284

Authors: Rizzu, P Joosse, M Ravid, R Hoogeveen, A Kamphorst, W van Swieten, JC Willemsen, R Heutink, P
Citation: P. Rizzu et al., Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients, HUM MOL GEN, 9(20), 2000, pp. 3075-3082

Authors: Bakker, CE Kooy, RF D'Hooge, R Tamanini, F Willemsen, R Nieuwenhuizen, I De Vries, BBA Reyniers, E Hoogeveen, AT Willems, PJ De Deyn, PP Oostra, BA
Citation: Ce. Bakker et al., Introduction of a FMR1 transgene in the fragile X knockout mouse., NEUROSC R C, 26(3), 2000, pp. 265-277

Authors: Arocena, DG de Diego, Y Oostra, BA Willemsen, R Rodriguez, MM
Citation: Dg. Arocena et al., A fragile X case with an amplification/deletion mosaic pattern, HUM GENET, 106(3), 2000, pp. 366-369

Authors: Willemsen, R Oostra, BA
Citation: R. Willemsen et Ba. Oostra, FMRP detection assay for the diagnosis of the fragile X syndrome, AM J MED G, 97(3), 2000, pp. 183-188

Authors: Tuncbilek, E Alikasifoglu, M Aktas, D Duman, F Yanik, H Anar, B Oostra, B Willemsen, R
Citation: E. Tuncbilek et al., Screening for the fragile X syndrome among mentally retarded males by hairroot analysis, AM J MED G, 95(2), 2000, pp. 105-107

Authors: Willemsen, R Olmer, R Otero, YD Oostra, BA
Citation: R. Willemsen et al., Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype, J MED GENET, 37(8), 2000, pp. 603-604

Authors: Bakker, CE Otero, YD Bontekoe, C Raghoe, P Luteijn, T Hoogeveen, AT Oostra, BA Willemsen, R
Citation: Ce. Bakker et al., Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse, EXP CELL RE, 258(1), 2000, pp. 162-170

Authors: de Crom, R van Haperen, R Janssens, R Visser, P Willemsen, R Grosveld, F van der Kamp, A
Citation: R. De Crom et al., Gp96/GRP94 is a putative high density lipoprotein binding protein in liver, BBA-MOL C B, 1437(3), 1999, pp. 378-392

Authors: Mancini, GMS Stojanov, L Willemsen, R Kleijer, WJ Huijmans, JGM van Diggelen, OP de Klerk, JBC Vuzevski, VD Oranje, AP
Citation: Gms. Mancini et al., Juvenile hyaline fibromatosis: Clinical heterogeneity in three patients, DERMATOLOGY, 198(1), 1999, pp. 18-25

Authors: Stone, DL van Diggelen, OP de Klerk, JBC Gaillard, JLJ Niermeijer, MF Willemsen, R Tayebi, N Sidransky, E
Citation: Dl. Stone et al., Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?, EUR J HUM G, 7(4), 1999, pp. 505-509

Authors: Guy, J Willemsen, R Langeveld, A Grosveld, F Drabek, D
Citation: J. Guy et al., Murine MHC class II locus control region drives expression of human beta-glucocerebrosidase in antigen presenting cells of transgenic mice, GENE THER, 6(4), 1999, pp. 498-507

Authors: Tamanini, F Bontekoe, C Bakker, CE van Unen, L Anar, B Willemsen, R Yoshida, M Galjaard, H Oostra, BA Hoogeveen, AT
Citation: F. Tamanini et al., Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations, HUM MOL GEN, 8(5), 1999, pp. 863-869

Authors: Willemsen, R Breynaert, J Lauwers, S
Citation: R. Willemsen et al., The influence of alcohol disinfection of nail samples in the laboratory, MYCOSES, 42(11-12), 1999, pp. 645-647

Authors: Lambiris, N Peters, H Bollmann, R Leschik, G Leisti, J Salonen, R Cobet, G Oostra, BA Willemsen, R
Citation: N. Lambiris et al., Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics, HUM GENET, 105(3), 1999, pp. 258-260

Authors: Tassone, F Hagerman, RJ Ikle, DN Dyer, PN Lampe, M Willemsen, R Oostra, BA Taylor, AK
Citation: F. Tassone et al., FMRP expression as a potential prognostic indicator in fragile X syndrome, AM J MED G, 84(3), 1999, pp. 250-261

Authors: Helderman-van den Enden, ATJM Maaswinkel-Mooij, PD Hoogendoorn, E Willemsen, R Maat-Kievit, JA Losekoot, M Oostra, BA
Citation: Atjm. Helderman-van Den Enden et al., Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities, J MED GENET, 36(3), 1999, pp. 253-257

Authors: Willemsen, R Anar, B Otero, YD de Vries, BBA Hilhorst-Hofstee, Y Smits, A van Looveren, E Willems, PJ Galjaard, H Oostra, BA
Citation: R. Willemsen et al., Noninvasive test for fragile X syndrome, using hair root analysis, AM J HU GEN, 65(1), 1999, pp. 98-103

Authors: de Vries, BBA Mohkamsing, S van den Ouweland, AMW Halley, DJJ Niermeijer, MF Oostra, BA Willemsen, R
Citation: Bba. De Vries et al., Screening with the FMR1 protein test among mentally retarded males, HUM GENET, 103(4), 1998, pp. 520-522
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