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A novel de novo pathogenic mutation in the CACNA1A gene.
Mov Disord. 2012 Oct;27(12):1578-9. doi: 10.1002/mds.25198. Epub 2012 Oct 4.
Mov Disord. 2012.
PMID: 23038654
Free PMC article.
No abstract available.
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD.
Alfadhel M, et al.
Am J Med Genet A. 2011 Apr;155A(4):840-4. doi: 10.1002/ajmg.a.33881. Epub 2011 Mar 15.
Am J Med Genet A. 2011.
PMID: 21412973
Review.
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Fever plus mitochondrial disease could be risk factors for autistic regression.
Shoffner J, Hyams L, Langley GN, Cossette S, Mylacraine L, Dale J, Ollis L, Kuoch S, Bennett K, Aliberti A, Hyland K.
Shoffner J, et al.
J Child Neurol. 2010 Apr;25(4):429-34. doi: 10.1177/0883073809342128. Epub 2009 Sep 22.
J Child Neurol. 2010.
PMID: 19773461
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