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Phenylketonuria--genotypes and phenotypes.
Scriver CR. Scriver CR. N Engl J Med. 1991 May 2;324(18):1280-1. doi: 10.1056/NEJM199105023241810. N Engl J Med. 1991. PMID: 2014040 No abstract available.
Garrod's foresight; our hindsight.
Scriver CR. Scriver CR. J Inherit Metab Dis. 2001 Apr;24(2):93-116. doi: 10.1023/a:1010351630856. J Inherit Metab Dis. 2001. PMID: 11405353 Review.
After the genome--the phenome?
Scriver CR. Scriver CR. J Inherit Metab Dis. 2004;27(3):305-17. doi: 10.1023/B:BOLI.0000031100.26546.6e. J Inherit Metab Dis. 2004. PMID: 15190190 Review.
PhenCode: connecting ENCODE data with mutations and phenotype.
Giardine B, Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J, Sang Y, Elnitski L, Cutting G, Trumbower H, Kern A, Kuhn R, Patrinos GP, Hughes J, Higgs D, Chui D, Scriver C, Phommarinh M, Patnaik SK, Blumenfeld O, Gottlieb B, Vihinen M, Väliaho J, Kent J, Miller W, Hardison RC. Giardine B, et al. Hum Mutat. 2007 Jun;28(6):554-62. doi: 10.1002/humu.20484. Hum Mutat. 2007. PMID: 17326095
Proof of "disease causing" mutation.
Cotton RG, Scriver CR. Cotton RG, et al. Among authors: scriver cr. Hum Mutat. 1998;12(1):1-3. doi: 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M. Hum Mutat. 1998. PMID: 9633813 No abstract available.
Recommendations for locus-specific databases and their curation.
Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT. Cotton RG, et al. Among authors: scriver cr. Hum Mutat. 2008 Jan;29(1):2-5. doi: 10.1002/humu.20650. Hum Mutat. 2008. PMID: 18157828 Free PMC article.
408 results