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Page 1
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR. Terhal PA, et al. Among authors: topsakal v. Am J Med Genet A. 2015 Mar;167A(3):461-75. doi: 10.1002/ajmg.a.36922. Epub 2015 Jan 21. Am J Med Genet A. 2015. PMID: 25604898
Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment.
Verver EJ, Freriks K, Sas TC, Huygen PL, Pennings RJ, Smeets DF, Hermus AR, Menke LA, Wit JM, Otten BJ, van Alfen-van der Velden JA, de Muinck Keizer-Schrama SM, Topsakal V, Admiraal RJ, Timmers HJ, Kunst HP. Verver EJ, et al. Among authors: topsakal v. Otol Neurotol. 2014 Oct;35(9):1577-84. doi: 10.1097/MAO.0000000000000406. Otol Neurotol. 2014. PMID: 25133471 Clinical Trial.
Middle ear abnormalities in Van Maldergem syndrome.
Verheij E, Thomeer HG, Pameijer FA, Topsakal V. Verheij E, et al. Among authors: topsakal v. Am J Med Genet A. 2017 Jan;173(1):239-244. doi: 10.1002/ajmg.a.37990. Epub 2016 Oct 14. Am J Med Genet A. 2017. PMID: 27739185
Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment.
Van Eyken E, Van Camp G, Fransen E, Topsakal V, Hendrickx JJ, Demeester K, Van de Heyning P, Mäki-Torkko E, Hannula S, Sorri M, Jensen M, Parving A, Bille M, Baur M, Pfister M, Bonaconsa A, Mazzoli M, Orzan E, Espeso A, Stephens D, Verbruggen K, Huyghe J, Dhooge I, Huygen P, Kremer H, Cremers CW, Kunst S, Manninen M, Pyykkö I, Lacava A, Steffens M, Wienker TF, Van Laer L. Van Eyken E, et al. Among authors: topsakal v. J Med Genet. 2007 Sep;44(9):570-8. doi: 10.1136/jmg.2007.049205. Epub 2007 May 18. J Med Genet. 2007. PMID: 17513527 Free PMC article.
126 results