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Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
Eur J Hum Genet. 2009 May;17(5):664-72. doi: 10.1038/ejhg.2008.234. Epub 2009 Jan 28.
Eur J Hum Genet. 2009.
PMID: 19172990
Free PMC article.
Laminopathies in Russian families.
Rudenskaya GE, Polyakov AV, Tverskaya SM, Zaklyazminskaya EV, Chukhrova AL, Groznova OE, Ginter EK.
Rudenskaya GE, et al. Among authors: tverskaya sm.
Clin Genet. 2008 Aug;74(2):127-33. doi: 10.1111/j.1399-0004.2008.01045.x. Epub 2008 Jun 28.
Clin Genet. 2008.
PMID: 18564364
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657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls.
Resnick IB, Kondratenko I, Pashanov E, Maschan AA, Karachunsky A, Togoev O, Timakov A, Polyakov A, Tverskaya S, Evgrafov O, Roumiantsev AG.
Resnick IB, et al.
Am J Med Genet A. 2003 Jul 15;120A(2):174-9. doi: 10.1002/ajmg.a.20188.
Am J Med Genet A. 2003.
PMID: 12833396
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Localization of the gene responsible for familial benign polycythemia to chromosome 11q23.
Vasserman NN, Karzakova LM, Tverskaya SM, Saperov VN, Muchukova OM, Pavlova GP, Efimova NK, Vankina NN, Evgrafov OV.
Vasserman NN, et al. Among authors: tverskaya sm.
Hum Hered. 1999 Jun;49(3):129-32. doi: 10.1159/000022859.
Hum Hered. 1999.
PMID: 10364675
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Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome.
Tverskaya S, Bobrynina V, Tsalykova F, Ignatova M, Krasnopolskaya X, Evgrafov O.
Tverskaya S, et al.
Hum Mutat. 1996;7(2):149-50. doi: 10.1002/(SICI)1098-1004(1996)7:2<149::AID-HUMU9>3.0.CO;2-7.
Hum Mutat. 1996.
PMID: 8829632
No abstract available.
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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V.
Evgrafov OV, et al.
Nat Genet. 2004 Jun;36(6):602-6. doi: 10.1038/ng1354. Epub 2004 May 2.
Nat Genet. 2004.
PMID: 15122254
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Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.
Resnick IB, Kondratenko I, Togoev O, Vasserman N, Shagina I, Evgrafov O, Tverskaya S, Cerosaletti KM, Gatti RA, Concannon P.
Resnick IB, et al.
J Pediatr. 2002 Mar;140(3):355-61. doi: 10.1067/mpd.2002.122724.
J Pediatr. 2002.
PMID: 11953735
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Prenatal DNA diagnosis on demand--a possible new approach to DNA service provision.
Tverskaya SM, Dadali EL, Evgrafov OV.
Tverskaya SM, et al.
Prenat Diagn. 1997 Oct;17(10):989-90. doi: 10.1002/(sici)1097-0223(199710)17:10<989::aid-pd177>3.0.co;2-m.
Prenat Diagn. 1997.
PMID: 9358582
No abstract available.
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