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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2011 1
2012 2
2013 6
2014 6
2015 4
2016 6
2017 2
2018 4
2019 6
2020 5
2021 2
2022 4
2023 0

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40 results

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Page 1
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: goos jac. Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14. Genet Med. 2022. PMID: 35833929 Free article.
Genetic Causes of Craniosynostosis: An Update.
Goos JAC, Mathijssen IMJ. Goos JAC, et al. Mol Syndromol. 2019 Feb;10(1-2):6-23. doi: 10.1159/000492266. Epub 2018 Aug 15. Mol Syndromol. 2019. PMID: 30976276 Free PMC article. Review.
Biologically Targeted Magnetic Hyperthermia: Potential and Limitations.
Chang D, Lim M, Goos JACM, Qiao R, Ng YY, Mansfeld FM, Jackson M, Davis TP, Kavallaris M. Chang D, et al. Among authors: goos jacm. Front Pharmacol. 2018 Aug 2;9:831. doi: 10.3389/fphar.2018.00831. eCollection 2018. Front Pharmacol. 2018. PMID: 30116191 Free PMC article. Review.
A novel mutation in FGFR2.
Goos JA, van den Ouweland AM, Swagemakers SM, Verkerk AJ, Hoogeboom AJ, van Veelen ML, Mathijssen IM, van der Spek PJ. Goos JA, et al. Am J Med Genet A. 2015 Jan;167A(1):123-7. doi: 10.1002/ajmg.a.36827. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425289
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N, van Wijck RTA, Broer L, Xue L, van Meurs JBJ, Barendregt BH, van der Burg M, Dik WA, Chatchatee P, Langerak AW, Swagemakers SMA, Goos JAC, Mathijssen IMJ, Dalm VASH, Suphapeetiporn K, Heezen KC, Drabwell J, Uitterlinden AG, van der Spek PJ, van Hagen PM; South East Asia Primary Immunodeficiencies (SEAPID) Consortium. Suratannon N, et al. Among authors: goos jac. Front Immunol. 2020 Apr 15;11:614. doi: 10.3389/fimmu.2020.00614. eCollection 2020. Front Immunol. 2020. PMID: 32373116 Free PMC article.
Correction: Optimisation of the Synthesis and Cell Labelling Conditions for [89Zr]Zr-oxine and [89Zr]Zr-DFO-NCS: a Direct In Vitro Comparison in Cell Types with Distinct Therapeutic Applications.
Friberger I, Jussing E, Han J, Goos JACM, Siikanen J, Kaipe H, Lambert M, Harris RA, Samén E, Carlsten M, Holmin S, Tran TA. Friberger I, et al. Among authors: goos jacm. Mol Imaging Biol. 2022 Jun;24(3):510. doi: 10.1007/s11307-022-01709-1. Mol Imaging Biol. 2022. PMID: 35174429 Free PMC article. No abstract available.
40 results