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217 results

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Page 1
The persistent embryonic vein in Klippel-Trenaunay syndrome.
Oduber CE, Young-Afat DA, van der Wal AC, van Steensel MA, Hennekam RC, van der Horst CM. Oduber CE, et al. Among authors: van der horst cm, van steensel ma, van der wal ac. Vasc Med. 2013 Aug;18(4):185-91. doi: 10.1177/1358863X13498463. Vasc Med. 2013. PMID: 23966121
Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial.
Gijezen LM, Vernooij M, Martens H, Oduber CE, Henquet CJ, Starink TM, Prins MH, Menko FH, Nelemans PJ, van Steensel MA. Gijezen LM, et al. Among authors: van steensel ma. PLoS One. 2014 Jun 9;9(6):e99071. doi: 10.1371/journal.pone.0099071. eCollection 2014. PLoS One. 2014. PMID: 24910976 Free PMC article. Clinical Trial.
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
Verstraeten VL, Broers JL, van Steensel MA, Zinn-Justin S, Ramaekers FC, Steijlen PM, Kamps M, Kuijpers HJ, Merckx D, Smeets HJ, Hennekam RC, Marcelis CL, van den Wijngaard A. Verstraeten VL, et al. Among authors: van steensel ma, van den wijngaard a. Hum Mol Genet. 2006 Aug 15;15(16):2509-22. doi: 10.1093/hmg/ddl172. Epub 2006 Jul 6. Hum Mol Genet. 2006. PMID: 16825282
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.
Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. Oji V, et al. J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. J Am Acad Dermatol. 2010. PMID: 20643494 Review.
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon ME, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IP, Hoefsloot LH, van Moorselaar RJ, Starink TM, Bayley JP, Frank J, van Steensel MA, Menko FH. Smit DL, et al. Among authors: van spaendonck ky, van moorselaar rj, van steensel ma. Clin Genet. 2011 Jan;79(1):49-59. doi: 10.1111/j.1399-0004.2010.01486.x. Clin Genet. 2011. PMID: 20618355
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT. Klaassens M, et al. Among authors: van steensel ma. Clin Genet. 2012 Aug;82(2):121-30. doi: 10.1111/j.1399-0004.2011.01758.x. Epub 2011 Aug 24. Clin Genet. 2012. PMID: 21801164 Free PMC article.
217 results