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Results: 1 to 20 of 21

1.

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S.

Am J Hum Genet. 2008 Nov;83(5):610-5. doi: 10.1016/j.ajhg.2008.09.017. Epub 2008 Oct 23.

PMID:
18950739
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Gene Ontology term overlap as a measure of gene functional similarity.

Mistry M, Pavlidis P.

BMC Bioinformatics. 2008 Aug 4;9:327. doi: 10.1186/1471-2105-9-327.

PMID:
18680592
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration.

Smith B, Ashburner M, Rosse C, Bard J, Bug W, Ceusters W, Goldberg LJ, Eilbeck K, Ireland A, Mungall CJ; OBI Consortium, Leontis N, Rocca-Serra P, Ruttenberg A, Sansone SA, Scheuermann RH, Shah N, Whetzel PL, Lewis S.

Nat Biotechnol. 2007 Nov;25(11):1251-5.

PMID:
17989687
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Total ancestry measure: quantifying the similarity in tree-like classification, with genomic applications.

Yu H, Jansen R, Stolovitzky G, Gerstein M.

Bioinformatics. 2007 Aug 15;23(16):2163-73. Epub 2007 May 31.

PMID:
17540677
[PubMed - indexed for MEDLINE]
Free Article
5.

Besides precision & recall: exploring alternative approaches to evaluating an automatic indexing tool for MEDLINE.

Neveol A, Zeng K, Bodenreider O.

AMIA Annu Symp Proc. 2006:589-93.

PMID:
17238409
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC.

N Engl J Med. 2006 Aug 24;355(8):788-98.

PMID:
16928994
[PubMed - indexed for MEDLINE]
Free Article
7.

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Hüffmeier U, Thiel C, Rüschendorf F, Nürnberg P, Reis A, Trautmann U.

Am J Med Genet A. 2006 Oct 1;140(19):2063-74.

PMID:
16917849
[PubMed - indexed for MEDLINE]
8.

Analysis of clinical features predicting etiologic yield in the assessment of global developmental delay.

Srour M, Mazer B, Shevell MI.

Pediatrics. 2006 Jul;118(1):139-45.

PMID:
16818559
[PubMed - indexed for MEDLINE]
Free Article
9.

Computer-assisted decision support for the diagnosis and treatment of infectious diseases in intensive care units.

Schurink CA, Lucas PJ, Hoepelman IM, Bonten MJ.

Lancet Infect Dis. 2005 May;5(5):305-12. Review.

PMID:
15854886
[PubMed - indexed for MEDLINE]
10.

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA.

Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7.

PMID:
15608251
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC.

Eur J Hum Genet. 2005 Jan;13(1):6-25. Review.

PMID:
15523501
[PubMed - indexed for MEDLINE]
Free Article
12.

Investigating semantic similarity measures across the Gene Ontology: the relationship between sequence and annotation.

Lord PW, Stevens RD, Brass A, Goble CA.

Bioinformatics. 2003 Jul 1;19(10):1275-83.

PMID:
12835272
[PubMed - indexed for MEDLINE]
Free Article
13.

[Orphanet, an information site on rare diseases].

Aymé S.

Soins. 2003 Jan-Feb;(672):46-7. French. No abstract available.

PMID:
12655825
[PubMed - indexed for MEDLINE]
14.
15.

Gene ontology: tool for the unification of biology. The Gene Ontology Consortium.

Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM, Davis AP, Dolinski K, Dwight SS, Eppig JT, Harris MA, Hill DP, Issel-Tarver L, Kasarskis A, Lewis S, Matese JC, Richardson JE, Ringwald M, Rubin GM, Sherlock G.

Nat Genet. 2000 May;25(1):25-9. No abstract available.

PMID:
10802651
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry.

Battaglia A, Bianchini E, Carey JC.

Am J Med Genet. 1999 Jan 1;82(1):60-6.

PMID:
9916845
[PubMed - indexed for MEDLINE]
17.

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.

Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, Cunniff C, Graham JM Jr, Jones MC, Kaback MM, Moeschler J, Schaefer GB, Schwartz S, Tarleton J, Opitz J.

Am J Med Genet. 1997 Nov 12;72(4):468-77. Review.

PMID:
9375733
[PubMed - indexed for MEDLINE]
18.

Quick medical reference (QMR) for diagnostic assistance.

Miller R, Masarie FE, Myers JD.

MD Comput. 1986 Sep-Oct;3(5):34-48. No abstract available.

PMID:
3537611
[PubMed - indexed for MEDLINE]
19.

DXplain. An evolving diagnostic decision-support system.

Barnett GO, Cimino JJ, Hupp JA, Hoffer EP.

JAMA. 1987 Jul 3;258(1):67-74.

PMID:
3295316
[PubMed - indexed for MEDLINE]
20.

POSSUM: the microcomputer laser-videodisk syndrome information system.

Bankier A, Keith CG.

Ophthalmic Paediatr Genet. 1989 Mar;10(1):51-2. No abstract available.

PMID:
2740073
[PubMed - indexed for MEDLINE]

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