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PeerJ. 2013 Oct 3;1:e177.
Comprehensive analysis of human endogenous retrovirus group HERV-W locus transcription in multiple sclerosis brain lesions by high throughput amplicon sequencing.
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J Virol. 2013 Oct 9. [Epub ahead of print]
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Hum Mutat. 2013 Oct 1. [Epub ahead of print]
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Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.
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BMC Med Genet. 2013 Oct 8;14(1):107.
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.
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Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.
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Clin Genet. 2013 Sep 14. [Epub ahead of print]
Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.
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A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
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