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List of works by Anna Kashevarova

46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study

scientific article published on 09 December 2020

A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.

scientific article published on 10 June 2016

A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability

scientific article published on 23 September 2018

Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene

scientific article published on 11 January 2018

Array CGH analysis of a cohort of Russian patients with intellectual disability.

scientific article published on 27 November 2013

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.

scientific article

LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy

scientific article published on 10 November 2020

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

scientific article

[Epigenetic effects of trisomy 16 in the human placenta]

scientific article published on 01 May 2013

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