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gene sequencing
- ... Barmada MM, Demirci FY, Kamboh MI. Lipoprotein lipase gene sequencing and plasma lipid profile. J Lipid Res. 2014 Jan;55(1):85-93. doi: 10.1194/jlr.M043265. Epub 2013 Nov 9. Citation on PubMed or ... lipase gene polymorphisms with longitudinal plasma lipid trends in young ...
- ... SH, Andermann E, Bird TD, Chance PF. SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. ...
- ... missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments. Genet ...
- ... ED. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res. ...
- ... with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012 Sep;11(9): ...
- ... Tests of DHODH PubMed DIHYDROOROTATE DEHYDROGENASE; DHODH NCBI Gene ClinVar Biesecker LG. Exome sequencing makes medical genomics a reality. Nat Genet. 2010 ...
- ... Jong PJ, Pennacchio LA, Lo CW. Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. Proc ...
- ... Bernier R, Eichler EE, Shendure J. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012 Dec 21; ...
- ... Bernier R, Eichler EE, Shendure J. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012 Dec 21; ...
- ... AW, Tzschach A, Kahrizi K, Ropers HH. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21; ...