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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Ruiz-Perez VL, et al. Among authors: strom tm. Nat Genet. 2000 Mar;24(3):283-6. doi: 10.1038/73508. Nat Genet. 2000. PMID: 10700184
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Müller-Myhsok B, Riedel L, Bauer M, Müller T, Castro M, Meitinger T, Strom TM, Gasser T. Zimprich A, et al. Among authors: strom tm. Nat Genet. 2001 Sep;29(1):66-9. doi: 10.1038/ng709. Nat Genet. 2001. PMID: 11528394
Homozygous XYLT2 variants as a cause of spondyloocular syndrome.
Umair M, Eckstein G, Rudolph G, Strom T, Graf E, Hendig D, Hoover J, Alanay J, Meitinger T, Schmidt H, Ahmad W. Umair M, et al. Clin Genet. 2018 Apr;93(4):913-918. doi: 10.1111/cge.13179. Epub 2018 Feb 20. Clin Genet. 2018. PMID: 29136277
Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, Meitinger T, Mizuno-Yamasaki E, Kawaguchi K, Saeki Y, Tanaka K, Wieland T, Graf E, Saeger W, Ronchi CL, Allolio B, Buchfelder M, Strom TM, Fassnacht M, Komada M. Reincke M, et al. Among authors: strom tm. Nat Genet. 2015 Jan;47(1):31-8. doi: 10.1038/ng.3166. Epub 2014 Dec 8. Nat Genet. 2015. PMID: 25485838
367 results