Search Results - den Dunnen, J. T.
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Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and ß-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification by Harteveld, C, Voskamp, A, Phylipsen, M, Akkermans, N, den Dunnen, J T, White, S, Giordano, P
Published 2005Text -
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Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. by Passos-Bueno, M R, Bakker, E, Kneppers, A L, Takata, R I, Rapaport, D, den Dunnen, J T, Zatz, M, van Ommen, G J
Published 1992Text -
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Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy. by Ginjaar, I B, Bakker, E, van Paassen, M M, den Dunnen, J T, Wessels, A, Zubrzycka-Gaarn, E E, Moorman, A F, van Ommen, G J
Published 1991Text -
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Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD. by Roest, P A, Bout, M, van der Tuijn, A C, Ginjaar, I B, Bakker, E, Hogervorst, F B, van Ommen, G J, den Dunnen, J T
Published 1996Text -
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Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. by van der Steege, G., Grootscholten, P. M., Cobben, J. M., Zappata, S., Scheffer, H., den Dunnen, J. T., van Ommen, G. J., Brahe, C., Buys, C. H.
Published 1996Text -
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Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups. by Nicholson, L V, Johnson, M A, Bushby, K M, Gardner-Medwin, D, Curtis, A, Ginjaar, I B, den Dunnen, J T, Welch, J L, Butler, T J, Bakker, E
Published 1993Text -
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Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual pat... by Nicholson, L V, Johnson, M A, Bushby, K M, Gardner-Medwin, D, Curtis, A, Ginjaar, I B, den Dunnen, J T, Welch, J L, Butler, T J, Bakker, E
Published 1993Text -
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Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognos... by Nicholson, L V, Johnson, M A, Bushby, K M, Gardner-Medwin, D, Curtis, A, Ginjaar, I B, den Dunnen, J T, Welch, J L, Butler, T J, Bakker, E
Published 1993Text -
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Analysis of the subcellular localization of huntingtin with a set of rabbit polyclonal antibodies in cultured mammalian cells of neuronal origin: comparison with the distribution o... by Dorsman, J C, Smoor, M A, Maat-Schieman, M L, Bout, M, Siesling, S, van Duinen, S G, Verschuuren, J J, den Dunnen, J T, Roos, R A, van Ommen, G J
Published 1999Text -
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Collembolan Transcriptomes Highlight Molecular Evolution of Hexapods and Provide Clues on the Adaptation to Terrestrial Life by Faddeeva, A., Studer, R. A., Kraaijeveld, K., Sie, D., Ylstra, B., Mariën, J., op den Camp, H. J. M., Datema, E., den Dunnen, J. T., van Straalen, N. M., Roelofs, D.
Published 2015Text