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KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.
Boulogne F, Claus LR, Wiersma H, Oelen R, Schukking F, de Klein N, Li S, Westra HJ, van der Zwaag B, van Reekum F; Genomics England Research Consortium; Sierks D, Schönauer R, Li Z, Bijlsma EK, Bos WJW, Halbritter J, Knoers NVAM, Besse W, Deelen P, Franke L, van Eerde AM. Boulogne F, et al. Among authors: bijlsma ek. Eur J Hum Genet. 2023 Nov;31(11):1300-1308. doi: 10.1038/s41431-023-01296-x. Epub 2023 Feb 20. Eur J Hum Genet. 2023. PMID: 36807342 Free PMC article.
Analysis of mutations in the SCH gene in schwannomas.
Bijlsma EK, Merel P, Bosch DA, Westerveld A, Delattre O, Thomas G, Hulsebos TJ. Bijlsma EK, et al. Genes Chromosomes Cancer. 1994 Sep;11(1):7-14. doi: 10.1002/gcc.2870110103. Genes Chromosomes Cancer. 1994. PMID: 7529050
Screening for germ-line mutations in the NF2 gene.
Mérel P, Hoang-Xuan K, Sanson M, Bijlsma E, Rouleau G, Laurent-Puig P, Pulst S, Baser M, Lenoir G, Sterkers JM, et al. Mérel P, et al. Genes Chromosomes Cancer. 1995 Feb;12(2):117-27. doi: 10.1002/gcc.2870120206. Genes Chromosomes Cancer. 1995. PMID: 7535084
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
Gijsbers AC, Lew JY, Bosch CA, Schuurs-Hoeijmakers JH, van Haeringen A, den Hollander NS, Kant SG, Bijlsma EK, Breuning MH, Bakker E, Ruivenkamp CA. Gijsbers AC, et al. Among authors: bijlsma ek. Eur J Hum Genet. 2009 Nov;17(11):1394-402. doi: 10.1038/ejhg.2009.74. Epub 2009 May 13. Eur J Hum Genet. 2009. PMID: 19436329 Free PMC article.
122 results