Soma Das to Molecular Sequence Data
This is a "connection" page, showing publications Soma Das has written about Molecular Sequence Data.
Connection Strength
0.235
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun; 48(6):396-406.
Score: 0.069
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Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002 Feb; 19(2):114-21.
Score: 0.037
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Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay. Am J Med Genet A. 2015 Jun; 167(6):1414-7.
Score: 0.023
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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. J Hum Genet. 2015 Jul; 60(7):363-9.
Score: 0.023
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat. 2012 Jun; 33(6):949-59.
Score: 0.019
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.018
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Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene. Pharmacogenet Genomics. 2008 Aug; 18(8):683-97.
Score: 0.014
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Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug; 77(2):193-204.
Score: 0.012
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Characterization of multiple promoters in the human carboxylesterase 2 gene. Pharmacogenetics. 2003 Jul; 13(7):425-35.
Score: 0.010
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Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics. 2002 Dec; 12(9):725-33.
Score: 0.010