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Volumn 2, Issue 3, 2002, Pages 407-414

Supporting genotype-phenotype correlation with the rare metabolic diseases database Ramedis

Author keywords

Case study; Database; Genotype phenotype correlation; Information system; Rare metabolic disease; Remote data entry

Indexed keywords

BIOINFORMATICS; COMPUTER INTERFACE; CONFERENCE PAPER; CORRELATION ANALYSIS; DATA ANALYSIS; GENETIC DATABASE; GENETIC HETEROGENEITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEALTH CARE PERSONNEL; HUMAN; INFORMATION PROCESSING; INTERNET; LONGITUDINAL STUDY; MEDICAL GENETICS; METABOLIC DISORDER; PHENOTYPE; PROSPECTIVE STUDY; STATISTICS; ARTICLE; DATA BASE; GENETICS; RARE DISEASE;

EID: 0036455462     PISSN: 13866338     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (6)

References (9)
  • 4
    • 0033982936 scopus 로고    scopus 로고
    • KEGG: Kyoto Encyclopedia of Genes and Genomes
    • Kanehisa, M. and Goto, S. (2000). KEGG: Kyoto Encyclopedia of Genes and Genomes. Nucleic Acids Res. 28, 27-30.
    • (2000) Nucleic Acids Res. , vol.28 , pp. 27-30
    • Kanehisa, M.1    Goto, S.2
  • 6
    • 0034576198 scopus 로고    scopus 로고
    • Knowledge acquisition, management and representation for the diagnostic support in human inborn errors of metabolism
    • Hofestädt, R., Mischke, U., Scholz, U. (2000). Knowledge acquisition, management and representation for the diagnostic support in human inborn errors of metabolism. Stud. Health Technol. Inform. 77, 857-62.
    • (2000) Stud. Health Technol. Inform. , vol.77 , pp. 857-862
    • Hofestädt, R.1    Mischke, U.2    Scholz, U.3
  • 8
    • 0033985936 scopus 로고    scopus 로고
    • MDI Special Articles - Online Mendelian Inheritance in Man (OMIM)
    • Hamosh, A., Scott, A. F., Amberger, J., Valle, D. and McKusick, V. A. (2000). MDI Special Articles - Online Mendelian Inheritance in Man (OMIM). Hum. Mutat. 15, 57-61.
    • (2000) Hum. Mutat. , vol.15 , pp. 57-61
    • Hamosh, A.1    Scott, A.F.2    Amberger, J.3    Valle, D.4    McKusick, V.A.5
  • 9
    • 0031813245 scopus 로고    scopus 로고
    • PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases
    • Nowacki, P. M., Byck, S., Prevost, L. and Scriver, C. R. (1998). PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases. Nucleic Acids Res. 26, 220-225.
    • (1998) Nucleic Acids Res. , vol.26 , pp. 220-225
    • Nowacki, P.M.1    Byck, S.2    Prevost, L.3    Scriver, C.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.