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HomozygosityMapper--an interactive approach to homozygosity mapping.
Seelow D, Schuelke M, Hildebrandt F, Nürnberg P. Seelow D, et al. Among authors: schuelke m. Nucleic Acids Res. 2009 Jul;37(Web Server issue):W593-9. doi: 10.1093/nar/gkp369. Epub 2009 May 21. Nucleic Acids Res. 2009. PMID: 19465395 Free PMC article.
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB, Gorza M, Danhauser K, Mayr JA, Haberberger B, Wieland T, Kremer L, Strecker V, Graf E, Memari Y, Ahting U, Kopajtich R, Wortmann SB, Rodenburg RJ, Kotzaeridou U, Hoffmann GF, Sperl W, Wittig I, Wilichowski E, Schottmann G, Schuelke M, Plecko B, Stephani U, Strom TM, Meitinger T, Prokisch H, Freisinger P. Haack TB, et al. Among authors: schuelke m. Mol Genet Metab. 2014 Mar;111(3):342-352. doi: 10.1016/j.ymgme.2013.12.010. Epub 2013 Dec 25. Mol Genet Metab. 2014. PMID: 24461907
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