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Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Among authors: van haaften g. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
A versatile microsatellite instability reporter system in human cells.
Koole W, Schäfer HS, Agami R, van Haaften G, Tijsterman M. Koole W, et al. Among authors: van haaften g. Nucleic Acids Res. 2013 Sep;41(16):e158. doi: 10.1093/nar/gkt615. Epub 2013 Jul 16. Nucleic Acids Res. 2013. PMID: 23861444 Free PMC article.
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER. McKie AB, et al. Among authors: van haaften g, van der smagt jj. Acta Neuropathol Commun. 2014 Dec 5;2:148. doi: 10.1186/s40478-014-0148-0. Acta Neuropathol Commun. 2014. PMID: 25476234 Free PMC article.
[Genetic obesity: new diagnostic options].
de Vries TI, Alsters SI, Kleinendorst L, van Haaften G, van der Zwaag B, Van Haelst MM. de Vries TI, et al. Among authors: van haelst mm, van der zwaag b, van haaften g. Ned Tijdschr Geneeskd. 2017;161:D688. Ned Tijdschr Geneeskd. 2017. PMID: 28351432 Dutch.
Exogenous anandamide protects rat brain against acute neuronal injury in vivo.
van der Stelt M, Veldhuis WB, van Haaften GW, Fezza F, Bisogno T, Bar PR, Veldink GA, Vliegenthart JF, Di Marzo V, Nicolay K. van der Stelt M, et al. Among authors: van haaften gw. J Neurosci. 2001 Nov 15;21(22):8765-71. doi: 10.1523/JNEUROSCI.21-22-08765.2001. J Neurosci. 2001. PMID: 11698588 Free PMC article.
E2F mediates enhanced alternative polyadenylation in proliferation.
Elkon R, Drost J, van Haaften G, Jenal M, Schrier M, Oude Vrielink JA, Agami R. Elkon R, et al. Among authors: van haaften g. Genome Biol. 2012 Jul 2;13(7):R59. doi: 10.1186/gb-2012-13-7-r59. Genome Biol. 2012. PMID: 22747694 Free PMC article.
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.
van Haaften G, Dalgliesh GL, Davies H, Chen L, Bignell G, Greenman C, Edkins S, Hardy C, O'Meara S, Teague J, Butler A, Hinton J, Latimer C, Andrews J, Barthorpe S, Beare D, Buck G, Campbell PJ, Cole J, Forbes S, Jia M, Jones D, Kok CY, Leroy C, Lin ML, McBride DJ, Maddison M, Maquire S, McLay K, Menzies A, Mironenko T, Mulderrig L, Mudie L, Pleasance E, Shepherd R, Smith R, Stebbings L, Stephens P, Tang G, Tarpey PS, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Collins VP, Ichimura K, Law S, Wong J, Yuen ST, Leung SY, Tonon G, DePinho RA, Tai YT, Anderson KC, Kahnoski RJ, Massie A, Khoo SK, Teh BT, Stratton MR, Futreal PA. van Haaften G, et al. Nat Genet. 2009 May;41(5):521-3. doi: 10.1038/ng.349. Epub 2009 Mar 29. Nat Genet. 2009. PMID: 19330029 Free PMC article.
93 results