Get started
Author

Д.А. Петухова

Observed names: D. A. Petukhova, D.A. Petukhova, Diana A. Petukhova, Diana Petukhova, Петухова, Д.А.
Institution: InSysBio (Russia)
ORCID: 0000-0002-6910-1307
Observed ORCID: 0000-0002-6910-1307
OpenAlex ID: A5026372593
Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta
2020 · D. A. Petukhova, E. E. Gurinova, et al. · Lecture notes in computer science · 7
Proteogenomic investigation of plant constituents in herbal beverages
2026 · Ivan K. Chudinov, Anastasia A. Krinitsina, et al. · npj Science of Food · 2
PDF
The case of multiple osteohondromas in Yakut family (Eastern Siberia, Russia) caused by rare mutation in the EXT2 gene
2019 · А.Е. Яковлева, Д.А. Петухова, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika» · 2
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines
2023 · Viktoriia Sofronova, Elizaveta Gurinova, et al. · International Journal of Molecular Sciences · 1
PDF
Gene-phenotypic analysis in patients with multiple hereditary exostoses in the Yakutian population
2022 · Яковлева, А.Е., Данилова, А.Л., et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika» · 1
Molecular Genetic Study of Multiple Hereditary Exostoses in the EXT2 Gene
2022 · Aleksandra Yakovleva, Anastasia Danilova, et al. · Advances in health sciences research/Advances in Health Sciences Research · 1
PDF
Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family
2021 · P.I. Golikova, D.A. Petukhova, et al. · S S Korsakov Journal of Neurology and Psychiatry
Molecular genetic analysis of the EXT2 gene - causes of hereditary multiple exostoses in Yakuts
2020 · А.Е. Яковлева, Д.А. Петухова, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
PDF
Tuberous sclerosis in the Republic of Sakha (Yakutia)
2020 · В.М. Софронова, Д.А. Петухова, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
PDF
A novel compound heterozygous variant in NBAS causing bone fragility by the type of osteogenesis imperfecta
2020 · Д.А. Петухова, Е.Е. Гуринова, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
PDF
Search for mutations in EXT1 and EXT2 genes in patients with multiple exostatic chondrodysplasia in the Republic of Sakha (Yakutia)
2020 · A.E. Yakovleva, A.L. Danilova, et al. · Yakut Medical Journal
Works count: 11
Citation count: 14
H-index: 2
I10-index:
Year
Topic
Type