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Connection

Soma Das to DNA Mutational Analysis

This is a "connection" page, showing publications Soma Das has written about DNA Mutational Analysis.
Connection Strength

1.025
  1. Denaturing high-performance liquid chromatography for mutation detection and genotyping. Methods Mol Biol. 2013; 1015:25-54.
    View in: PubMed
    Score: 0.393
  2. Denaturing high-performance liquid chromatography for mutation detection and genotyping. Methods Mol Biol. 2005; 311:73-96.
    View in: PubMed
    Score: 0.226
  3. Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Eur J Hum Genet. 2009 Jul; 17(7):911-8.
    View in: PubMed
    Score: 0.074
  4. Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory. Genet Med. 2008 May; 10(5):332-6.
    View in: PubMed
    Score: 0.071
  5. NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. Genet Med. 2005 Oct; 7(8):524-33.
    View in: PubMed
    Score: 0.059
  6. Significance of PTEN alterations in endometrial carcinoma: a population-based study of mutations, promoter methylation and PTEN protein expression. Int J Oncol. 2004 Dec; 25(6):1615-23.
    View in: PubMed
    Score: 0.056
  7. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002 Feb; 19(2):114-21.
    View in: PubMed
    Score: 0.046
  8. A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. J Hum Genet. 2015 Jul; 60(7):363-9.
    View in: PubMed
    Score: 0.029
  9. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62.
    View in: PubMed
    Score: 0.029
  10. Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). Am J Ophthalmol. 2005 Aug; 140(2):267-74.
    View in: PubMed
    Score: 0.015
  11. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004 Feb; 23(2):147-159.
    View in: PubMed
    Score: 0.013
  12. Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol. 2003 Jul; 54(1):30-7.
    View in: PubMed
    Score: 0.013
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.