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

Year Number of Results
2005 1
2006 4
2007 3
2008 4
2009 8
2010 13
2011 13
2012 15
2013 17
2014 7
2015 20
2016 12
2017 11
2018 7
2019 10
2020 13
2021 19
2022 24
2023 17
2024 18
2025 20

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212 results

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Page 1
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study; Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM. Reijnders MRF, et al. Among authors: mathijssen imj. Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31. Am J Hum Genet. 2018. PMID: 29861108 Free PMC article.
Genetic Causes of Craniosynostosis: An Update.
Goos JAC, Mathijssen IMJ. Goos JAC, et al. Among authors: mathijssen imj. 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.
Benchmarking for craniosynostosis.
Mathijssen IM, Arnaud E. Mathijssen IM, et al. J Craniofac Surg. 2007 Mar;18(2):436-42. doi: 10.1097/scs.0b013e31802d4c6c. J Craniofac Surg. 2007. PMID: 17414298
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: mathijssen imj. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
A bibliometric overview of craniosynostosis research development.
Iping R, Cohen AM, Abdel Alim T, van Veelen MC, van de Peppel J, van Leeuwen JPTM, Joosten KFM, Mathijssen IMJ. Iping R, et al. Among authors: mathijssen imj. Eur J Med Genet. 2021 Jun;64(6):104224. doi: 10.1016/j.ejmg.2021.104224. Epub 2021 Apr 16. Eur J Med Genet. 2021. PMID: 33866005 Free article. Review.
Feeding difficulties in craniofacial microsomia: a systematic review.
Caron CJ, Pluijmers BI, Joosten KF, Mathijssen IM, van der Schroeff MP, Dunaway DJ, Wolvius EB, Koudstaal MJ. Caron CJ, et al. Int J Oral Maxillofac Surg. 2015 Jun;44(6):732-7. doi: 10.1016/j.ijom.2015.02.014. Epub 2015 Mar 12. Int J Oral Maxillofac Surg. 2015. PMID: 25771070
Vertebral anomalies in craniofacial microsomia: a systematic review.
Renkema RW, Caron CJJM, Mathijssen IMJ, Wolvius EB, Dunaway DJ, Forrest CR, Padwa BL, Koudstaal MJ. Renkema RW, et al. Among authors: mathijssen imj. Int J Oral Maxillofac Surg. 2017 Oct;46(10):1319-1329. doi: 10.1016/j.ijom.2017.04.025. Epub 2017 Jun 29. Int J Oral Maxillofac Surg. 2017. PMID: 28669484
Obstructive sleep apnoea in craniofacial microsomia: a systematic review.
Caron CJ, Pluijmers BI, Joosten KF, Mathijssen IM, van der Schroeff MP, Dunaway DJ, Wolvius EB, Koudstaal MJ. Caron CJ, et al. Int J Oral Maxillofac Surg. 2015 May;44(5):592-8. doi: 10.1016/j.ijom.2015.01.023. Epub 2015 Mar 11. Int J Oral Maxillofac Surg. 2015. PMID: 25769220
212 results