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Page 1
Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.
Genes (Basel). 2021 May 27;12(6):820. doi: 10.3390/genes12060820.
Genes (Basel). 2021.
PMID: 34071867
Free PMC article.
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.
Zernov NV, Skoblov MY, Marakhonov AV, Shimomura Y, Vasilyeva TA, Konovalov FA, Abrukova AV, Zinchenko RA.
Zernov NV, et al. Among authors: abrukova av.
J Invest Dermatol. 2016 Jun;136(6):1097-1105. doi: 10.1016/j.jid.2016.01.037. Epub 2016 Feb 20.
J Invest Dermatol. 2016.
PMID: 26902920
Free article.
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Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH.
Kazantseva A, Goltsov A, Zinchenko R, Grigorenko AP, Abrukova AV, Moliaka YK, Kirillov AG, Guo Z, Lyle S, Ginter EK, Rogaev EI.
Kazantseva A, et al. Among authors: abrukova av.
Science. 2006 Nov 10;314(5801):982-5. doi: 10.1126/science.1133276.
Science. 2006.
PMID: 17095700
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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.
Bliznetz EA, Tverskaya SM, Zinchenko RA, Abrukova AV, Savaskina EN, Nikulin MV, Kirillov AG, Ginter EK, Polyakov AV.
Bliznetz EA, et al. Among authors: abrukova av.
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.
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