Soma Das to Base Sequence
This is a "connection" page, showing publications Soma Das has written about Base Sequence.
Connection Strength
0.278
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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: 0.074
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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. 2008 Apr; 10(4):294-300.
Score: 0.060
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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. J Hum Genet. 2018 Mar; 63(3):349-356.
Score: 0.029
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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: 0.024
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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: 0.024
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.019
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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: 0.015
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Effects of prednisone and genetic polymorphisms on etoposide disposition in children with acute lymphoblastic leukemia. Blood. 2004 Jan 01; 103(1):67-72.
Score: 0.011
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Characterization of multiple promoters in the human carboxylesterase 2 gene. Pharmacogenetics. 2003 Jul; 13(7):425-35.
Score: 0.011
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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