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

Year Number of Results
2005 3
2006 2
2007 3
2009 1
2011 1
2012 2
2013 3
2014 5
2015 5
2016 2
2017 3
2018 1
2019 2
2020 2
2021 1
2023 1
2024 0

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30 results

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Page 1
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW. Oud MM, et al. Among authors: van vlies n. Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132690 Free PMC article.
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.
Langereis EJ, Wagemans T, Kulik W, Lefeber DJ, van Lenthe H, Oussoren E, van der Ploeg AT, Ruijter GJ, Wevers RA, Wijburg FA, van Vlies N. Langereis EJ, et al. Among authors: van vlies n. PLoS One. 2015 Sep 25;10(9):e0138622. doi: 10.1371/journal.pone.0138622. eCollection 2015. PLoS One. 2015. PMID: 26406883 Free PMC article.
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
Knottnerus SJG, Nijmeijer SCM, IJlst L, Te Brinke H, van Vlies N, Wijburg FA. Knottnerus SJG, et al. Among authors: van vlies n. Ann Neurol. 2017 Nov;82(5):686-696. doi: 10.1002/ana.25069. Epub 2017 Oct 26. Ann Neurol. 2017. PMID: 29023963 Free PMC article.
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.
Kubaski F, Mason RW, Nakatomi A, Shintaku H, Xie L, van Vlies NN, Church H, Giugliani R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii T, Fukao T, Montaño AM, Tomatsu S. Kubaski F, et al. Among authors: van vlies nn. J Inherit Metab Dis. 2017 Jan;40(1):151-158. doi: 10.1007/s10545-016-9981-6. Epub 2016 Oct 7. J Inherit Metab Dis. 2017. PMID: 27718145 Free PMC article.
30 results