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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Přistoupilová A, Hodaňová K, Vyleťal P, Hartmannová H, Stránecký V, Hůlková H, Barešová V, Jedličková I, Sovová J, Hnízda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL. Bolar NA, et al. Among authors: matthys e. Am J Hum Genet. 2016 Jul 7;99(1):174-87. doi: 10.1016/j.ajhg.2016.05.028. Am J Hum Genet. 2016. PMID: 27392076 Free PMC article.
Trisomy 3 mosaicism in a patient with Bartter syndrome.
De Keyser F, Matthys E, De Paepe A, Verschraegen-Spae MR, Matton M. De Keyser F, et al. Among authors: matthys e. J Med Genet. 1988 May;25(5):358. doi: 10.1136/jmg.25.5.358. J Med Genet. 1988. PMID: 3385747 Free PMC article. No abstract available.
Itraconazole pharmacokinetics in patients with renal dysfunction.
Boelaert J, Schurgers M, Matthys E, Daneels R, van Peer A, De Beule K, Woestenborghs R, Heykants J. Boelaert J, et al. Among authors: matthys e. Antimicrob Agents Chemother. 1988 Oct;32(10):1595-7. doi: 10.1128/AAC.32.10.1595. Antimicrob Agents Chemother. 1988. PMID: 2847635 Free PMC article.
55 results