SARAH ELSEA to Base Sequence
This is a "connection" page, showing publications SARAH ELSEA has written about Base Sequence.
Connection Strength
0.268
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Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet. 2010 Aug 13; 87(2):219-28.
Score: 0.061
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17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome. Clin Genet. 2007 Jul; 72(1):47-58.
Score: 0.050
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RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 2005 Nov; 42(11):820-8.
Score: 0.042
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Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 2003 Apr; 33(4):466-8.
Score: 0.037
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Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. Am J Hum Genet. 1995 Dec; 57(6):1342-50.
Score: 0.022
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Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method. Dis Markers. 2013; 35(6):589-94.
Score: 0.019
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RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A. 2006 Nov 15; 140(22):2454-63.
Score: 0.012
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Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment. J Biol Chem. 1998 Dec 11; 273(50):33540-7.
Score: 0.007
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Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13. Cytogenet Cell Genet. 1998; 81(1):79-82.
Score: 0.006
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Increased drug affinity as the mechanistic basis for drug hypersensitivity of a mutant type II topoisomerase. J Biol Chem. 1995 Nov 24; 270(47):28018-21.
Score: 0.006
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A mutation in yeast TOP2 homologous to a quinolone-resistant mutation in bacteria. Mutation of the amino acid homologous to Ser83 of Escherichia coli gyrA alters sensitivity to eukaryotic topoisomerase inhibitors. J Biol Chem. 1995 Sep 01; 270(35):20359-64.
Score: 0.005