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1Academic Journal
Συγγραφείς: V. Yu. Voinova, E. A. Nikolaeva, N. V. Shсherbakova, M. I. Yuablonskaya, В. Ю. Воинова, Е. А. Николаева, Н. В. Щербакова, М. И. Яблонская
Συνεισφορές: Ministry of Health of Russia, Министерство здравоохранения Российской Федерации
Πηγή: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 64, № 1 (2019); 103-109 ; Российский вестник перинатологии и педиатрии; Том 64, № 1 (2019); 103-109 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2019-64-1
Θεματικοί όροι: прогностический вторичный вариант, hereditary diseases, full-excinal sequencing, new generation sequencing, interpretation of sequencing data, primary diagnosis, possible diagnosis, double diagnosis, prognostic secondary variant, наследственные болезни, полноэкзомное секвенирование, секвенирование нового поколения, интерпретация данных секвенирования, первичный диагноз, возможный диагноз, двойной диагноз
Περιγραφή αρχείου: application/pdf
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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. Hum Mutat 2017; 38(5): 511–516. DOI:10.1002/humu.23196.; Matchmaker Exchange. http://www.matchmakerexchange.org/; Undiagnosed Disease Network. https://undiagnosed.hms.harvard.edu/; Wenger A.M., Guturu H., Bernstein J.A., Bejerano G. Systematic reanalysis of clinical exome data yields additional diagnoses: Implications for providers. Genet Med 2017; 19(2): 209–214. DOI:10.1038/gim.2016.88.; Balci T.B., Hartley T., Xi Y., Beaulieu C.L., Bernier F.P., Dupuis L., Horvath G.A. et al. Debunking Occam’s razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. Clin Genet 2017; 92(3): 281–289. DOI:10.1111/cge.12987; Kalia S.S., Adelman K., Bale S.J., Chung W.K., Eng C., Evans J.P., Herman G.E. et al. 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2Academic Journal
Συγγραφείς: V. Yu. Voinova, E. A. Nikolaeva, N. V. Shсherbakova, M. I. Yuablonskaya
Πηγή: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 1, Pp 103-109 (2019)
Θεματικοί όροι: дети, наследственные болезни, полноэкзомное секвенирование, секвенирование нового поколения, интерпретация данных секвенирования, первичный диагноз, возможный диагноз, двойной диагноз, прогностический вторичный вариант, Pediatrics, RJ1-570
Relation: https://www.ped-perinatology.ru/jour/article/view/829; https://doaj.org/toc/1027-4065; https://doaj.org/toc/2500-2228; https://doaj.org/article/87a89e6f9fea49b9ae4fbed24c7a054c