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Results 1 - 10 of 69 for gene sequencing
  1. ... 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 ...
  2. ... SH, Andermann E, Bird TD, Chance PF. SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. ...
  3. ... missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments. Genet ...
  4. ... 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. ...
  5. ... with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012 Sep;11(9): ...
  6. ... Tests of DHODH PubMed DIHYDROOROTATE DEHYDROGENASE; DHODH NCBI Gene ClinVar Biesecker LG. Exome sequencing makes medical genomics a reality. Nat Genet. 2010 ...
  7. ... Jong PJ, Pennacchio LA, Lo CW. Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. Proc ...
  8. ... Bernier R, Eichler EE, Shendure J. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012 Dec 21; ...
  9. ... Bernier R, Eichler EE, Shendure J. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012 Dec 21; ...
  10. ... AW, Tzschach A, Kahrizi K, Ropers HH. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21; ...
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