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Page 1
Identification of candidate genes for developmental colour agnosia in a single unique family.
Nijboer TCW, Hessel EVS, van Haaften GW, van Zandvoort MJ, van der Spek PJ, Troelstra C, de Kovel CGF, Koeleman BPC, van der Zwaag B, Brilstra EH, Burbach JPH. Nijboer TCW, et al. Among authors: van der spek pj. PLoS One. 2023 Sep 6;18(9):e0290013. doi: 10.1371/journal.pone.0290013. eCollection 2023. PLoS One. 2023. PMID: 37672513 Free PMC article.
Pollitt syndrome patients carry mutation in TTDN1.
Swagemakers SM, Jaspers NG, Raams A, Heijsman D, Vermeulen W, Troelstra C, Kremer A, Lincoln SE, Tearle R, Hoeijmakers JH, van der Spek PJ. Swagemakers SM, et al. Among authors: van der spek pj. Meta Gene. 2014 Aug 30;2:616-8. doi: 10.1016/j.mgene.2014.08.001. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606444 Free PMC article.
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF; Deciphering Developmental Disorders Study; van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM. Calpena E, et al. Among authors: van der spek pj, van dooren mf, van binsbergen e. Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905399 Free PMC article.
Absence of common somatic alterations in genes on 1p and 19q in oligodendrogliomas.
Bralten LB, Nouwens S, Kockx C, Erdem L, Hoogenraad CC, Kros JM, Moorhouse MJ, Sillevis Smitt PA, van der Spek P, van Ijcken W, Stubbs A, French PJ. Bralten LB, et al. Among authors: van der spek p, van ijcken w. PLoS One. 2011;6(7):e22000. doi: 10.1371/journal.pone.0022000. Epub 2011 Jul 7. PLoS One. 2011. PMID: 21760942 Free PMC article.
A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.
Vossen ARJV, van Straalen KR, Swagemakers SMA, de Klein JEMM, Stubbs AP, Venter DJ, van der Zee HH, van der Spek PJ, Prens EP. Vossen ARJV, et al. Among authors: van straalen kr, van der spek pj, van der zee hh. J Eur Acad Dermatol Venereol. 2020 Oct;34(10):2353-2361. doi: 10.1111/jdv.16310. Epub 2020 Mar 12. J Eur Acad Dermatol Venereol. 2020. PMID: 32078194 Free PMC article.
Exon expression arrays as a tool to identify new cancer genes.
Schutte M, Elstrodt F, Bralten LB, Nagel JH, Duijm E, Hollestelle A, Vuerhard MJ, Wasielewski M, Peeters JK, van der Spek P, Sillevis Smitt PA, French PJ. Schutte M, et al. Among authors: van der spek p. PLoS One. 2007 Aug 20;3(8):e3007. doi: 10.1371/journal.pone.0003007. PLoS One. 2007. PMID: 18688287 Free PMC article.
237 results