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Year | Number of Results |
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1994 | 1 |
2001 | 1 |
2010 | 1 |
2020 | 1 |
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ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
Am J Med Genet. 2001 Mar 15;99(3):217-22. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1167>3.0.co;2-r.
Am J Med Genet. 2001.
PMID: 11241493
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC.
Kaler SG, et al.
J Inherit Metab Dis. 2010 Oct;33(5):583-9. doi: 10.1007/s10545-010-9118-2. Epub 2010 Jul 21.
J Inherit Metab Dis. 2010.
PMID: 20652413
Free PMC article.
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Diverse mutations in patients with Menkes disease often lead to exon skipping.
Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J.
Das S, et al.
Am J Hum Genet. 1994 Nov;55(5):883-9.
Am J Hum Genet. 1994.
PMID: 7977350
Free PMC article.
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Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X, Liu B, Yang L, Wang H, Wu B, Liu R, Chen H, Chen X, Yu S, Chen B, Wang S, Xu X, Zhou W, Lu Y.
Dong X, et al.
J Med Genet. 2020 Aug;57(8):558-566. doi: 10.1136/jmedgenet-2019-106377. Epub 2020 Jan 31.
J Med Genet. 2020.
PMID: 32005694
Free PMC article.
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