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Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
Whitford W, Hawkins I, Glamuzina E, Wilson F, Marshall A, Ashton F, Love DR, Taylor J, Hill R, Lehnert K, Snell RG, Jacobsen JC. Whitford W, et al. Among authors: snell rg. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a001909. doi: 10.1101/mcs.a001909. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 28696212 Free PMC article.
An ovine transgenic Huntington's disease model.
Jacobsen JC, Bawden CS, Rudiger SR, McLaughlan CJ, Reid SJ, Waldvogel HJ, MacDonald ME, Gusella JF, Walker SK, Kelly JM, Webb GC, Faull RL, Rees MI, Snell RG. Jacobsen JC, et al. Among authors: snell rg. Hum Mol Genet. 2010 May 15;19(10):1873-82. doi: 10.1093/hmg/ddq063. Epub 2010 Feb 13. Hum Mol Genet. 2010. PMID: 20154343 Free PMC article.
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.
Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME. Chiang C, et al. Among authors: snell rg. Nat Genet. 2012 Mar 4;44(4):390-7, S1. doi: 10.1038/ng.2202. Nat Genet. 2012. PMID: 22388000 Free PMC article.
Metabolic proteomics of the liver and mammary gland during lactation.
Rawson P, Stockum C, Peng L, Manivannan B, Lehnert K, Ward HE, Berry SD, Davis SR, Snell RG, McLauchlan D, Jordan TW. Rawson P, et al. Among authors: snell rg. J Proteomics. 2012 Jul 19;75(14):4429-35. doi: 10.1016/j.jprot.2012.04.019. Epub 2012 Apr 24. J Proteomics. 2012. PMID: 22554911
134 results