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Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability

European psychiatry, 2023-03, Vol.66 (S1), p.S887-S887

2023

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A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

Frontiers in genetics, 2024-03, Vol.15, p.1331066-1331066

2024

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Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies

European psychiatry, 2023-03, Vol.66 (S1), p.S887-S887

2023

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Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing

Klinicheskaia laboratornaia diagnostika, 2022-04, Vol.67 (4), p.250

2022

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X-Linked CNV in Pathogenetics of Intellectual Disability

Russian journal of genetics, 2022-10, Vol.58 (10), p.1193-1207

2022

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The ATOX1 Gene Role in Copper Metabolism and the Pathogenesis of Copper-Induced Diseases

Russian journal of genetics, 2023-03, Vol.59 (3), p.242-250

2023

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Modifier Genes as a Cause of Wilson–Konovalov Disease Clinical Polymorphism

Russian journal of genetics, 2021-05, Vol.57 (5), p.522-532

2021

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P–381 Deciphering the genetic cause of recurrent and sporadic pregnancy loss

Human reproduction (Oxford), 2021-08, Vol.36 (Supplement_1)

2021

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ДНЕВНЫЕ ЧЕШУЕКРЫЛЫЕ (INSECTA, LEPIDOPTERA: HESPERIOIDEA, PAPILIONOIDEA) АЯНО-МАЙСКОГО РАЙОНА ХАБАРОВСКОГО КРАЯ

Amurskiĭ zoologicheskiĭ zhurnal, 2010-12, Vol.2 (4)

2010

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Deciphering the genetic cause of recurrent and sporadic pregnancy loss

EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, Vol.30 (SUPPL 1), p.111

2022

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Deciphering the genetic cause of recurrent and sporadic pregnancy loss

HUMAN REPRODUCTION, 2021, Vol.36, p.309

2021

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P-546 The structure of genome variations at CNV level differs in recurrent and sporadic pregnancy loss

Human reproduction (Oxford), 2022-06, Vol.37 (Supplement_1)

2022

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P-547 Confined placental mosaicism for inherited segmental aneuploidies in miscarriages traces early karyotype self-correction events

Human reproduction (Oxford), 2022-06, Vol.37 (Supplement_1)

2022

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Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss

Cytogenetic and genome research, 2022-10, Vol.162 (3), p.97-108

2022

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Reaction of Small and Medium-Sized Enterprises to the Corona Crisis: the Impact of Regional Authorities

Ekonomika regiona, 2022, Vol.18 (3), p.653-672

2022

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Methodology for Calculating, Forecasting and Substantiating the Residual Period of Service of Building Structures

IOP conference series. Materials Science and Engineering, 2021-03, Vol.1079 (3), p.32069

2021

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Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss

Cytogenetic and genome research, 2020-07, Vol.160 (5), p.245-254

2020

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

Genes, 2020-12, Vol.11 (12), p.1473

2020

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The nature and prevalence of chromosomal dynamics in early spontaneous pregnancy loss

EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, Vol.32, p.24

2024

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Some aspects of occupational spinal diseases

Meditsina truda i promyshlennaia ekologiia, 2003 (9), p.8

2003

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Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies

Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing

X-Linked CNV in Pathogenetics of Intellectual Disability

The ATOX1 Gene Role in Copper Metabolism and the Pathogenesis of Copper-Induced Diseases

Modifier Genes as a Cause of Wilson–Konovalov Disease Clinical Polymorphism

P–381 Deciphering the genetic cause of recurrent and sporadic pregnancy loss

Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

ДНЕВНЫЕ ЧЕШУЕКРЫЛЫЕ (INSECTA, LEPIDOPTERA: HESPERIOIDEA, PAPILIONOIDEA) АЯНО-МАЙСКОГО РАЙОНА ХАБАРОВСКОГО КРАЯ

Deciphering the genetic cause of recurrent and sporadic pregnancy loss

Deciphering the genetic cause of recurrent and sporadic pregnancy loss

P-546 The structure of genome variations at CNV level differs in recurrent and sporadic pregnancy loss

P-547 Confined placental mosaicism for inherited segmental aneuploidies in miscarriages traces early karyotype self-correction events

Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss

Reaction of Small and Medium-Sized Enterprises to the Corona Crisis: the Impact of Regional Authorities

Methodology for Calculating, Forecasting and Substantiating the Residual Period of Service of Building Structures

Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss

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

The nature and prevalence of chromosomal dynamics in early spontaneous pregnancy loss

Some aspects of occupational spinal diseases

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