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Nikolay Alekseevich Skryabin

Well Cited

87
Works
560
Citations
12
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Nikolay Alekseevich Skryabin

Also known as: N A Skryabin, N Skryabin, N. A Skryabin, N. A. Skryabin, N. Skryabin

87

Total Works

560

Citations

12

H-Index

16

i10-Index

Citation & Works Trend by Year
16 years active
Top Research Topics
Genomic variations and chromosomal abnormalities (32) Genomics and Rare Diseases (20) Genetics and Neurodevelopmental Disorders (14) Prenatal Screening and Diagnostics (12) Epigenetics and DNA Methylation (11)
Recent Publications
15 shown
Year Publication Title Citations Action
2026 Novel Genetic Variants of the CHD2 Gene in cis Position in a Patient with Epileptic Encephalopathy: A Case Report and In Silico Analysis of the Impact of the Variants on the Protein International Journal of Molecular Sciences 0
2026 A clinical case of X-linked hypohidrotic ectodermal dysplasia caused by an Xq13.1 duplication affecting the EDA gene Vavilov Journal of Genetics and Breeding 0
2026 A novel variant of NF1 gene in a patient with neurofibromatosis type 1: a case report Siberian Journal of Oncology 0
2026 The Role of the XIAP Gene in Human Pathology Russian Journal of Genetics 0
2026 A Population Frequency Study of TCF4 Gene Polymorphisms Associated with Schizophrenia Based on Genomic Databases Psychiatry International 0
2026 A novel homozygous variant in the ATP7B gene in a patient with Wilson’s disease: a case report Frontiers in Medicine 0
2026 Genetic Portrait of the Dolgans of the Anabar River Russian Journal of Genetics 0
2025 A familial case of Bothnian palmoplantar keratoderma caused by the c.103T>G substitution in the AQP5 gene Russian Journal of Clinical Dermatology and Venereology 0
2025 A familial case of Marfan syndrome: a novel variant in the FBN1 gene RUDN Journal of Medicine 0
2025 Single-cell transcriptomics reveals a conserved embryonic progenitor in different human cancers bioRxiv (Cold Spring Harbor Laboratory) 0
2025 Biop-C enables genome-wide detection of balanced and unbalanced rearrangements in preimplantation human embryos Research Square 0
2025 Positive and Negative Symptoms of Schizophrenia and Polymorphic Variants of the TCF4 Gene: Pilot Associative Study International Journal of Molecular Sciences 1
2025 Embryoid bodies as a model system for exploring early human embryonic development Journal of Assisted Reproduction and Genetics 4
2025 Cystic fibrosis therapy: from symptoms to the cause of the disease Vavilov Journal of Genetics and Breeding 2
2025 Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders Molecular Cytogenetics 4

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