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Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.
Am J Med Genet A. 2017 Nov;173(11):2968-2972. doi: 10.1002/ajmg.a.38466. Epub 2017 Sep 8.
Am J Med Genet A. 2017.
PMID: 28884940
External ear anomalies and hearing impairment in Noonan Syndrome.
van Trier DC, van Nierop J, Draaisma JMT, van der Burgt I, Kunst H, Croonen EA, Admiraal RJC.
van Trier DC, et al.
Int J Pediatr Otorhinolaryngol. 2015 Jun;79(6):874-878. doi: 10.1016/j.ijporl.2015.03.021. Epub 2015 Apr 1.
Int J Pediatr Otorhinolaryngol. 2015.
PMID: 25862627
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Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
van Trier DC, Vos AM, Draaijer RW, van der Burgt I, Draaisma JM, Cruysberg JR.
van Trier DC, et al.
Ophthalmology. 2016 Oct;123(10):2137-46. doi: 10.1016/j.ophtha.2016.06.061. Epub 2016 Aug 9.
Ophthalmology. 2016.
PMID: 27521173
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Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.
van Nierop JWI, van Trier DC, van der Burgt I, Draaisma JMT, Mylanus EAM, Snik AF, Admiraal RJC, Kunst HPM.
van Nierop JWI, et al. Among authors: van trier dc.
Int J Pediatr Otorhinolaryngol. 2017 Jun;97:228-234. doi: 10.1016/j.ijporl.2017.04.024. Epub 2017 Apr 17.
Int J Pediatr Otorhinolaryngol. 2017.
PMID: 28483241
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Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.
van Trier DC, van der Burgt I, Draaijer RW, Cruysberg JRM, Noordam C, Draaisma JM.
van Trier DC, et al.
Eur J Pediatr. 2018 Aug;177(8):1293-1298. doi: 10.1007/s00431-018-3183-1. Epub 2018 Jun 9.
Eur J Pediatr. 2018.
PMID: 29948256
Free PMC article.
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Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.
van Trier DC, Feenstra I, Bot P, de Leeuw N, Draaisma JM.
van Trier DC, et al.
Eur J Med Genet. 2013 Aug;56(8):426-31. doi: 10.1016/j.ejmg.2013.05.002. Epub 2013 May 22.
Eur J Med Genet. 2013.
PMID: 23707655
Review.
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