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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Among authors: kloosterman w. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713
Development of a Personalized Tumor Neoantigen Based Vaccine Formulation (FRAME-001) for Use in a Phase II Trial for the Treatment of Advanced Non-Small Cell Lung Cancer.
Oosting LT, Franke K, Martin MV, Kloosterman WP, Jamieson JA, Glenn LA, de Jager MW, van Zanten J, Allersma DP, Gareb B. Oosting LT, et al. Among authors: kloosterman wp. Pharmaceutics. 2022 Jul 21;14(7):1515. doi: 10.3390/pharmaceutics14071515. Pharmaceutics. 2022. PMID: 35890409 Free PMC article.
Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t(16;21) in a series of three RUNX1-mutated FPD/AML pedigrees.
Buijs A, Poot M, van der Crabben S, van der Zwaag B, van Binsbergen E, van Roosmalen MJ, Tavakoli-Yaraki M, de Weerdt O, Nieuwenhuis HK, van Gijn M, Kloosterman WP. Buijs A, et al. Among authors: kloosterman wp. Leukemia. 2012 Sep;26(9):2151-4. doi: 10.1038/leu.2012.79. Epub 2012 Mar 20. Leukemia. 2012. PMID: 22430633 No abstract available.
A multi-platform reference for somatic structural variation detection.
Espejo Valle-Inclan J, Besselink NJM, de Bruijn E, Cameron DL, Ebler J, Kutzera J, van Lieshout S, Marschall T, Nelen M, Priestley P, Renkens I, Roemer MGM, van Roosmalen MJ, Wenger AM, Ylstra B, Fijneman RJA, Kloosterman WP, Cuppen E. Espejo Valle-Inclan J, et al. Among authors: kloosterman wp. Cell Genom. 2022 Jun 8;2(6):100139. doi: 10.1016/j.xgen.2022.100139. eCollection 2022 Jun 8. Cell Genom. 2022. PMID: 36778136 Free PMC article.
Metabolic Engineering toward Sustainable Production of Nylon-6.
Turk SC, Kloosterman WP, Ninaber DK, Kolen KP, Knutova J, Suir E, Schürmann M, Raemakers-Franken PC, Müller M, de Wildeman SM, Raamsdonk LM, van der Pol R, Wu L, Temudo MF, van der Hoeven RA, Akeroyd M, van der Stoel RE, Noorman HJ, Bovenberg RA, Trefzer AC. Turk SC, et al. ACS Synth Biol. 2016 Jan 15;5(1):65-73. doi: 10.1021/acssynbio.5b00129. Epub 2015 Nov 11. ACS Synth Biol. 2016. PMID: 26511532
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Among authors: kloosterman wp. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM. van der Crabben SN, et al. Among authors: kloosterman w. Am J Med Genet A. 2014 Jan;164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259184 Review.
95 results