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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14.
Genet Med. 2020.
PMID: 31607746
Free PMC article.
Molecular bases and clinical spectrum of early infantile epileptic encephalopathies.
Tavyev Asher YJ, Scaglia F.
Tavyev Asher YJ, et al.
Eur J Med Genet. 2012 May;55(5):299-306. doi: 10.1016/j.ejmg.2012.04.002. Epub 2012 Apr 22.
Eur J Med Genet. 2012.
PMID: 22548976
Review.
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