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List of works by Nikolay Skryabin

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

Clinically relevant morphological structures in breast cancer represent transcriptionally distinct tumor cell populations with varied degrees of epithelial-mesenchymal transition and CD44+CD24- stemness.

scientific article

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

scientific article

Genomic structural variations for cardiovascular and metabolic comorbidity

scientific article (publication date: 25 January 2017)

Karyotype of the blastocoel fluid demonstrates low concordance with both trophectoderm and inner cell mass

scientific article published on 01 June 2018

Phenotypic drift as a cause for intratumoral morphological heterogeneity of invasive ductal breast carcinoma not otherwise specified.

scientific article published on April 2013

Relationship between morphological and cytogenetic heterogeneity in invasive micropapillary carcinoma of the breast: a report of one case.

scientific article

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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