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Volumn 42, Issue 3, 2012, Pages 74-78

Solving the puzzle: Case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey

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TRANSCRIPTION FACTOR GLI3;

EID: 84856889340     PISSN: 15385442     EISSN: 15383199     Source Type: Journal    
DOI: 10.1016/j.cppeds.2011.10.003     Document Type: Article
Times cited : (7)

References (10)
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    • D.T. Miller, M.P. Adam, S. Aradhya, L.G. Biesecker, A.R. Brothman, N.P. Carter Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet 86 2010 749 764
    • (2010) Am J Hum Genet , vol.86 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3    Biesecker, L.G.4    Brothman, A.R.5    Carter, N.P.6
  • 4
    • 0033058487 scopus 로고    scopus 로고
    • Molecular genetics of maturity-onset diabetes of the young
    • DOI 10.1016/S1043-2760(98)00134-9, PII S1043276098001349
    • P. Froguel, G. Velho Molecular genetics of maturity-onset diabetes of the young Trends Endocrinol Metab 10 1999 142 146 (Pubitemid 29284348)
    • (1999) Trends in Endocrinology and Metabolism , vol.10 , Issue.4 , pp. 142-146
    • Froguel, P.1    Velho, G.2
  • 5
    • 27144554025 scopus 로고    scopus 로고
    • Perturbations in the development of infants with Rett disorder and the implications for early diagnosis
    • B. Burford Perturbations in the development of infants with Rett disorder and the implications for early diagnosis Brain Dev 27 Suppl 1 2005 S3 S7
    • (2005) Brain Dev , vol.27 , Issue.SUPPL 1
    • Burford, B.1
  • 6
    • 0037002625 scopus 로고    scopus 로고
    • An update on clinically applicable diagnostic criteria in Rett syndrome
    • Comments to Rett syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001
    • B. Hagberg, F. Hanefeld, A. Percy, O. Skjeldal An update on clinically applicable diagnostic criteria in Rett syndrome Comments to Rett syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 Eur J Paediatr Neurol 6 2002 293 297
    • (2002) Eur J Paediatr Neurol , vol.6 , pp. 293-297
    • Hagberg, B.1    Hanefeld, F.2    Percy, A.3    Skjeldal, O.4
  • 10
    • 33847321093 scopus 로고    scopus 로고
    • Array comparative genomic hybridization for diagnosis of developmental delay - An exploratory cost-consequences analysis
    • DOI 10.1111/j.1399-0004.2007.00756.x
    • W.G. Newman, S. Hamilton, J. Ayres, N. Sanghera, A. Smith, L. Gaunt Array comparative genomic hybridization for diagnosis of developmental delay: An exploratory cost-consequences analysis Clin Genet 71 2007 254 259 (Pubitemid 46322664)
    • (2007) Clinical Genetics , vol.71 , Issue.3 , pp. 254-259
    • Newman, W.G.1    Hamilton, S.2    Ayres, J.3    Sanghera, N.4    Smith, A.5    Gaunt, L.6    Davies, L.M.7    Clayton-Smith, J.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.