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List of works by Ekaterina Tolmacheva

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

Aneuploidy and DNA Methylation as Mirrored Features of Early Human Embryo Development

scientific article published on 17 September 2020

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

Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss

scientific article published on 03 February 2020

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

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