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Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.
Poquérusse J, Nolan M, Thorburn DR, Van Hove JLK, Friederich MW, Love DR, Taylor J, Powell CA, Minczuk M, Snell RG, Lehnert K, Glamuzina E, Jacobsen JC. Poquérusse J, et al. Among authors: lehnert k. JIMD Rep. 2023 Jan 22;64(3):223-232. doi: 10.1002/jmd2.12360. eCollection 2023 May. JIMD Rep. 2023. PMID: 37151360 Free PMC article.
Profiling the metabolic proteome of bovine mammary tissue.
Beddek AJ, Rawson P, Peng L, Snell R, Lehnert K, Ward HE, Jordan TW. Beddek AJ, et al. Among authors: lehnert k. Proteomics. 2008 Apr;8(7):1502-15. doi: 10.1002/pmic.200700864. Proteomics. 2008. PMID: 18383006
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: lehnert k. 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
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: lehnert k. Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26. Case Rep Genet. 2015. PMID: 26587300 Free PMC article.
229 results