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Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochm├╝ller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N. Vermeer S, et al. Am J Hum Genet. 2010 Dec 10;87(6):813-9. doi: 10.1016/j.ajhg.2010.10.015. Epub 2010 Nov 18. Am J Hum Genet. 2010. PMID: 21092923 Free PMC article.
Aetiology of hypospadias: a systematic review of genes and environment.
van der Zanden LF, van Rooij IA, Feitz WF, Franke B, Knoers NV, Roeleveld N. van der Zanden LF, et al. Among authors: knoers nv. Hum Reprod Update. 2012 May-Jun;18(3):260-83. doi: 10.1093/humupd/dms002. Epub 2012 Feb 26. Hum Reprod Update. 2012. PMID: 22371315 Review.
Congenital myopathy caused by a novel missense mutation in the CFL2 gene.
Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Dara Hama-Amin A, Diekstra A, Knoers NV, Lammens M, van Alfen N. Ockeloen CW, et al. Among authors: knoers nv. Neuromuscul Disord. 2012 Jul;22(7):632-9. doi: 10.1016/j.nmd.2012.03.008. Epub 2012 May 4. Neuromuscul Disord. 2012. PMID: 22560515 Free PMC article.
Nephrogenic diabetes insipidus.
Knoers NV, Monnens LL. Knoers NV, et al. Semin Nephrol. 1999 Jul;19(4):344-52. Semin Nephrol. 1999. PMID: 10435672 Review.
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