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Page 1
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
J Med Genet. 2007 Jun;44(6):368-72. doi: 10.1136/jmg.2006.047464. Epub 2007 Jan 26.
J Med Genet. 2007.
PMID: 17259292
Free PMC article.
The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers.
Davidson JE, Russell JS, Martinez NN, Mowat DR, Jones KJ, Kirk EP, Kariyawasam D, Farrar M, D'Silva A.
Davidson JE, et al. Among authors: mowat dr.
Genes (Basel). 2023 Jul 6;14(7):1403. doi: 10.3390/genes14071403.
Genes (Basel). 2023.
PMID: 37510307
Free PMC article.
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WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.
Waddell LB, Bryen SJ, Cummings BB, Bournazos A, Evesson FJ, Joshi H, Marshall JL, Tukiainen T, Valkanas E, Weisburd B, Sadedin S, Davis MR, Faiz F, Gooding R, Sandaradura SA, O'Grady GL, Tchan MC, Mowat DR, Oates EC, Farrar MA, Sampaio H, Ma A, Neas K, Wang MX, Charlton A, Chan C, Kenwright DN, Graf N, Arbuckle S, Clarke NF, MacArthur DG, Jones KJ, Lek M, Cooper ST.
Waddell LB, et al. Among authors: mowat dr.
Neurol Genet. 2021 Jan 29;7(1):e554. doi: 10.1212/NXG.0000000000000554. eCollection 2021 Feb.
Neurol Genet. 2021.
PMID: 33977140
Free PMC article.
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Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants.
Jones HF, Bryen SJ, Waddell LB, Bournazos A, Davis M, Farrar MA, McLean CA, Mowat DR, Sampaio H, Woodcock IR, Ryan MM, Jones KJ, Cooper ST.
Jones HF, et al. Among authors: mowat dr.
Neuromuscul Disord. 2019 Dec;29(12):913-919. doi: 10.1016/j.nmd.2019.09.013. Epub 2019 Sep 25.
Neuromuscul Disord. 2019.
PMID: 31706698
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Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.
Taylor PJ, Betts GA, Maroulis S, Gilissen C, Pedersen RL, Mowat DR, Johnston HM, Buckley MF.
Taylor PJ, et al. Among authors: mowat dr.
PLoS One. 2010 Jan 20;5(1):e8803. doi: 10.1371/journal.pone.0008803.
PLoS One. 2010.
PMID: 20098710
Free PMC article.
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