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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.
MutationDistiller: user-driven identification of pathogenic DNA variants.
Hombach D, Schuelke M, Knierim E, Ehmke N, Schwarz JM, Fischer-Zirnsak B, Seelow D. Hombach D, et al. Among authors: schuelke m. Nucleic Acids Res. 2019 Jul 2;47(W1):W114-W120. doi: 10.1093/nar/gkz330. Nucleic Acids Res. 2019. PMID: 31106342 Free PMC article.
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J. Uhlenberg B, et al. Among authors: schuelke m. Am J Hum Genet. 2004 Aug;75(2):251-60. doi: 10.1086/422763. Epub 2004 Jun 10. Am J Hum Genet. 2004. PMID: 15192806 Free PMC article.
196 results