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337 results

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A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.
Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H. Yntema HG, et al. Among authors: van bokhoven h, van den helm b, van duijnhoven g. Genomics. 1999 Dec 15;62(3):332-43. doi: 10.1006/geno.1999.6004. Genomics. 1999. PMID: 10644430
A high-resolution interval map of the q21 region of the human X chromosome.
Philippe C, Arnould C, Sloan F, van Bokhoven H, van der Velde-Visser SD, Chery M, Ropers HH, Gilgenkrantz S, Monaco AP, Cremers FP. Philippe C, et al. Among authors: van der velde visser sd, van bokhoven h. Genomics. 1995 Jun 10;27(3):539-43. doi: 10.1006/geno.1995.1089. Genomics. 1995. PMID: 7558039 Free article.
Cloning and characterization of the human choroideremia gene.
van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP. van Bokhoven H, et al. Among authors: van den hurk ja. Hum Mol Genet. 1994 Jul;3(7):1041-6. doi: 10.1093/hmg/3.7.1041. Hum Mol Genet. 1994. PMID: 7981670
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.
van Bokhoven H, Schwartz M, Andréasson S, van den Hurk JA, Bogerd L, Jay M, Rüther K, Jay B, Pawlowitzki IH, Sankila EM, et al. van Bokhoven H, et al. Among authors: van den hurk ja. Hum Mol Genet. 1994 Jul;3(7):1047-51. doi: 10.1093/hmg/3.7.1047. Hum Mol Genet. 1994. PMID: 7981671
Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.
van der Maarel SM, Scholten IH, Maat-Kievit JA, Huber I, de Kok YJ, de Wijs I, van de Pol TJ, van Bokhoven H, den Dunnen JT, van Ommen GJ, et al. van der Maarel SM, et al. Among authors: van de pol tj, van ommen gj, van bokhoven h. Eur J Hum Genet. 1995;3(4):207-18. doi: 10.1159/000472301. Eur J Hum Genet. 1995. PMID: 8528669
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
van den Hurk JA, Schwartz M, van Bokhoven H, van de Pol TJ, Bogerd L, Pinckers AJ, Bleeker-Wagemakers EM, Pawlowitzki IH, Rüther K, Ropers HH, Cremers FP. van den Hurk JA, et al. Among authors: van de pol tj, van bokhoven h. Hum Mutat. 1997;9(2):110-7. doi: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D. Hum Mutat. 1997. PMID: 9067750 Free article. Review.
337 results