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Volumn 48, Issue 9, 2011, Pages 579-579

Exome diagnostics: Already a reality?

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE DIARRHEA; ETHICS; EXOME; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC PROCEDURES; GENETIC SCREENING; HEALTH CARE PERSONNEL; HUMAN; LEBER CONGENITAL AMAUROSIS; NOTE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 80052605109     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100385     Document Type: Note
Times cited : (3)

References (4)
  • 1
    • 80052566945 scopus 로고    scopus 로고
    • A new ocular phenotype associated with an unexpected, but knownsystemic disorder and mutation: Novel use of genomic diagnostics and exome sequencing
    • Majewski J, Wang Z, Lopez I, Al Humaid S, Ren H, Bazinet A, Racine J, Mitchel G, Braverman N, Koenekoop R. A new ocular phenotype associated with an unexpected, but knownsystemic disorder and mutation: Novel use of genomic diagnostics and exome sequencing. J Med Genet 2011;48:593-6.
    • (2011) J Med Genet , vol.48 , pp. 593-596
    • Majewski, J.1    Wang, Z.2    Lopez, I.3    Al Humaid, S.4    Ren, H.5    Bazinet, A.6    Racine, J.7    Mitchel, G.8    Braverman, N.9    Koenekoop, R.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.