T. Conrad Gilliam to Mutation
This is a "connection" page, showing publications T. Conrad Gilliam has written about Mutation.
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0.339
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Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet. 2002 Mar; 30(3):335-41.
Score: 0.089
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An integrative computational approach for prioritization of genomic variants. PLoS One. 2014; 9(12):e114903.
Score: 0.054
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Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM2-activator locus. Neurology. 1991 Sep; 41(9):1418-22.
Score: 0.043
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Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9.
Score: 0.032
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LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology. 2004 Apr 13; 62(7):1120-6.
Score: 0.026
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EB simplex superficialis resulting from a mutation in the type VII collagen gene. J Invest Dermatol. 2002 Mar; 118(3):547-9.
Score: 0.022
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Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. Hum Mol Genet. 1999 Sep; 8(9):1665-71.
Score: 0.019
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Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet. 1997 Aug; 61(2):317-28.
Score: 0.016
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A microsatellite genetic linkage map of human chromosome 18. Genomics. 1993 Jan; 15(1):48-56.
Score: 0.012
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Digital genotyping using molecular affinity and mass spectrometry. Nat Rev Genet. 2003 Dec; 4(12):1001-8.
Score: 0.006
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Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003 Apr 18; 113(2):249-60.
Score: 0.006
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The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet. 1999 Oct; 23(2):233-6.
Score: 0.005
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Differential SMN2 expression associated with SMA severity. Nat Genet. 1998 Nov; 20(3):230-1.
Score: 0.004
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DNA markers for nervous system diseases. Science. 1984 Sep 21; 225(4668):1320-6.
Score: 0.002
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The implications of genetic variation in human pathology. Biochem Soc Symp. 1984; 49:183-8.
Score: 0.002
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Cystic fibrosis is not caused by a defect in the gene coding for human complement C3. Mol Biol Med. 1983 Sep; 1(2):185-90.
Score: 0.002