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Volumn 127, Issue 9, 2013, Pages 968-970

Using whole exome sequencing to walk from clinical practice to research and back again

Author keywords

[No Author keywords available]

Indexed keywords

CALMODULIN; CALMODULIN 1; CALMODULIN 2; CALMODULIN 3; PROTEIN RET; UNCLASSIFIED DRUG;

EID: 84874649001     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.113.001284     Document Type: Review
Times cited : (7)

References (14)
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  • 4
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    • An integrated encyclopedia of DNA elements in the human genome
    • The ENCODE Project Consortium
    • The ENCODE Project Consortium. An integrated encyclopedia of DNA elements in the human genome. Nature. 2012;489:57-74.
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  • 7
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    • Genotypic and phenotypic heterogeneity in familial microcoria
    • Bremner FD, Houlden H, Smith SE. Genotypic and phenotypic heterogeneity in familial microcoria. Br J Ophthalmol. 2004;88:469-473.
    • (2004) Br J Ophthalmol , vol.88 , pp. 469-473
    • Bremner, F.D.1    Houlden, H.2    Smith, S.E.3
  • 9
    • 79955056302 scopus 로고    scopus 로고
    • Medical DNA sequencing
    • Marian AJ. Medical DNA sequencing. Curr Opin Cardiol. 2011;26:175-180.
    • (2011) Curr Opin Cardiol , vol.26 , pp. 175-180
    • Marian, A.J.1
  • 10
    • 22244480355 scopus 로고    scopus 로고
    • RET proto-oncogene: A review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors
    • Kouvaraki MA, Shapiro SE, Perrier ND, Cote GJ, Gagel RF, Hoff AO, Sherman SI, Lee JE, Evans DB. RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors. Thyroid. 2005;15:531-544.
    • (2005) Thyroid , vol.15 , pp. 531-544
    • Kouvaraki, M.A.1    Shapiro, S.E.2    Perrier, N.D.3    Cote, G.J.4    Gagel, R.F.5    Hoff, A.O.6    Sherman, S.I.7    Lee, J.E.8    Evans, D.B.9
  • 11
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    • Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure
    • Goh V, Helbling D, Biank V, Jarzembowski J, Dimmock D. Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure. J Pediatr Gastroenterol Nutr. 2012;54:291-294.
    • (2012) J Pediatr Gastroenterol Nutr , vol.54 , pp. 291-294
    • Goh, V.1    Helbling, D.2    Biank, V.3    Jarzembowski, J.4    Dimmock, D.5
  • 12
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    • Interpreting noncoding genetic variation in complex traits and human disease
    • Ward LD, Kellis M. Interpreting noncoding genetic variation in complex traits and human disease. Nat Biotechnol. 2012;30:1095-1106.
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  • 13
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    • Mutational analysis of FBXO7 gene in Parkinson's disease in a Taiwanese population
    • Published online before print January 23 doi:10.1016/j.neurobiolaging. 2012.12.023 )00656-2/abstract. Accessed January 29
    • Lin CH, Chen ML, Lai TT, Tai CH, Wu RM. Mutational analysis of FBXO7 gene in Parkinson's disease in a Taiwanese population. Neurobiol Aging. Published online before print January 23, 2013. doi:10.1016/j.neurobiolaging. 2012.12.023. http://www.neurobiologyofaging.org/article/S0197-4580(12)00656-2/abstract. Accessed January 29, 2013.
    • (2013) Neurobiol Aging , Issue.12 , pp. 2013
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.