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15 results
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Arts syndrome is caused by loss-of-function mutations in PRPS1.
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. de Brouwer AP, et al. Among authors: egmont petersen m. Am J Hum Genet. 2007 Sep;81(3):507-18. doi: 10.1086/520706. Epub 2007 Aug 3. Am J Hum Genet. 2007. PMID: 17701896 Free PMC article.
Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.
Hehir-Kwa JY, Egmont-Petersen M, Janssen IM, Smeets D, van Kessel AG, Veltman JA. Hehir-Kwa JY, et al. Among authors: egmont petersen m. DNA Res. 2007 Feb 28;14(1):1-11. doi: 10.1093/dnares/dsm002. Epub 2007 Mar 15. DNA Res. 2007. PMID: 17363414 Free PMC article.
Contrast-enhanced magnetic resonance imaging of bone marrow.
Van der Woude HJ, Egmont-Petersen M. Van der Woude HJ, et al. Among authors: egmont petersen m. Semin Musculoskelet Radiol. 2001;5(1):21-33. doi: 10.1055/s-2001-12922. Semin Musculoskelet Radiol. 2001. PMID: 11371333
On the quality of neural net classifiers.
Egmont-Petersen M, Talmon JL, Brender J, McNair P. Egmont-Petersen M, et al. Artif Intell Med. 1994 Oct;6(5):359-81. doi: 10.1016/0933-3657(94)90002-7. Artif Intell Med. 1994. PMID: 7842038
User-requirements driven learning.
Karthaus V, Thygesen H, Egmont-Petersen M, Talmon J, Brender J, McNair P. Karthaus V, et al. Comput Methods Programs Biomed. 1995 Sep-Oct;48(1-2):39-44. doi: 10.1016/0169-2607(95)01658-g. Comput Methods Programs Biomed. 1995. PMID: 8846710
15 results