Rezultati pretrage - BUYS, C

An anonymous single copy genomic clone at 13q12-13q13 identifies three RFLPs [HGM8 assignment no. D13S11]. od Scheffer, H, Penninga, D, Goor, N, Pearson, P L, Buys, C H

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A four-allele RFLP identified by an anonymous single copy genomic clone at 13q21-13qter [HGM8 assignment no. D13S12] od Scheffer, H, Penninga, D, Goor, N, Pearson, P L, Buys, C H

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A Hirschsprung disease locus at 22q11? od Kerstjens-Frederi..., W, Hofstra, R, van Essen, A J, Meijers, J, Buys, C

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The single copy probe pG24E2.4 [D13S21] reveals a Bsp1286 RFLP at 13q14.1-q14.2. od Bowcock, A M, Hebert, J M, Scheffer, H, Penninga, D, Buys, C H

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The anonymous probe pG50 identifying the locus D13S24 detects a two allele RFLP with SspI. od Bowcock, A M, Hebert, J M, Scheffer, H, Penninga, D, Buys, C H

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Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE. od Wu, Y, Stulp, R P, Elfferich, P, Osinga, J, Buys, C H, Hofstra, R M

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Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense od SCHEFFER, H, VAN DER VLIES, P, BURTON, M, VERLIND, E, MOLL, A, IMHOF, S, BUYS, C

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A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) od Brooks, A., Breuning, M., Osinga, J., Smagt, J., Catsman, C., Buys, C., Meijers, C., Hofstra, R.

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A high frequency RFLP identified by an anonymous single copy genomic clone at 13q14.1-13q14.2 [HGM8 assignment no. D13S22]. od Bowcock, A M, Scheffer, H, Hebert, J M, van den Berg, J H, Buys, C H

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Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. od Cobben, J M, van der Steege, G, Grootscholten, P, de Visser, M, Scheffer, H, Buys, C H

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A gene in the chromosomal region 3p21 with greatly reduced expression in lung cancer is similar to the gene for ubiquitin-activating enzyme. od Kok, K, Hofstra, R, Pilz, A, van den Berg, A, Terpstra, P, Buys, C H, Carritt, B

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Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6) od KOK, K, MOSSELAAR, A, FABER, H, DIJKHUIZEN, T, DRAAIJERS, T, VAN DER VEEN, A Y, BUYS, C, SCHRANDER-STUMPEL, C

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A new RFLP identified at the D3S48 locus od Kok, K., Fan, M.-Z., Jonas, A., Van Den Berg, A, Carritt, B., Buys, C.H.C.M.

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Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis. od Wu, Y, Hayes, V M, Osinga, J, Mulder, I M, Looman, M W, Buys, C H, Hofstra, R M

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A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. od Hofstra, R M, Valdenaire, O, Arch, E, Osinga, J, Kroes, H, Löffler, B M, Hamosh, A, Meijers, C, Buys, C H

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BclI RFLP for the human vimentin gene. od Marcus, E M, Smith, B A, Telenius, H, Landsvater, R M, Buys, C H, Ferrari, S, Ponder, B A, Mathew, C G

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Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis. od Hayes, V M, Wu, Y, Osinga, J, Mulder, I M, van der Vlies, P, Elfferich, P, Buys, C H, Hofstra, R M

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Oncological implications of RET gene mutations in Hirschsprung's disease od Sijmons, R, Hofstra, R, Wijburg, F, Links, T, Zwierstra, R, Vermey, A, Aronson, D, Tan-Sindhunata, G, Brouwers-Smalbraa..., G, Maas, S, Buys, C

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Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? od Hofstra, R, Elfferich, P, Osinga, J, Verlind, E, Fransen, E, Lopez, P, de Die-Smulders, C E M, Stolte-Dijkstra, I, Buys, C

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Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I. od Cobben, J M, de Visser, M, Scheffer, H, Osinga, J, van der Steege, G, Buys, C H, van Ommen, G J, ten Kate, L P

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