| Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta DA Petukhova, EE Gurinova, AL Sukhomyasova, NR Maksimova International Symposium on Bioinformatics Research and Applications, 38-43, 2020 | 5 | 2020 |
| Molecular genetic study of multiple hereditary exostoses in the EXT2 gene A Yakovleva, A Danilova, D Petukhova, A Sukhomyasova, N Maksimova Conference on Health and Wellbeing in Modern Society (CHW 2021), 251-255, 2022 | 1 | 2022 |
| A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines V Sofronova, E Gurinova, D Petukhova, H Fukamatsu, T Yamamoto, ... International Journal of Molecular Sciences 24 (6), 5647, 2023 | | 2023 |
| A new variant of c409delA in the EXT2 gene identified among Yakut families with hereditary multiple exostosis AE Yakovleva, AL Danilova, DA Petukhova, PI Golikova, GD Moskvitin, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 165-165, 2022 | | 2022 |
| The spectrum of mutations in the EXT1 gene among patients with Multiple Hereditary Exostoses in the Republic of Sakha (Yakutia) A Yakovleva, A Danilova, D Petukhova, P Golikova, A Fedorov, ... Bioinformatics of Genome Regulation and Structure/Systems Biology (BGRS/SB …, 2022 | | 2022 |
| Mutation c. 396dupT in the CLN6 gene–the main cause of neuronal ceroid lipofucinosis in Yakutia P Golikova, A Sukhomyasova, I Nikolaeva, E Gurinova, D Petukhova, ... Bioinformatics of Genome Regulation and Structure/Systems Biology (BGRS/SB …, 2022 | | 2022 |
| Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family PI Golikova, DA Petukhova, AL Sukhomyasova, TY Nikolaeva, ... Zhurnal Nevrologii i Psikhiatrii Imeni SS Korsakova 121 (8), 71-76, 2021 | | 2021 |
| Compound heterozygous variant in NBAS as a case of bone fragility by the type of osteogenesis imperfecta DA Petukhova, E Gurinova, A Sukhomyasova, N Maksimova EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 838-839, 2020 | | 2020 |
| Identification of rare mutation in ext2 gene among patients with multiple hereditary exostoses A Yakovleva, A Danilova, M Savvina, D Petukhova, A Sukhomyasova, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 831-832, 2020 | | 2020 |
| Tuberous sclerosis in the Republic of Sakha (Yakutia) VM Sofronova, DA Petukhova, AL Sukhomyasova, NR Maksimova Medical Genetics 19 (8), 24-26, 2020 | | 2020 |
| Molecular genetic analysis of the EXT2 gene-causes of hereditary multiple exostoses in Yakuts AE Yakovleva, DA Petukhova, AL Danilova, AL Sukhomyasova, ... Medical Genetics 19 (8), 59-60, 2020 | | 2020 |
| A novel compound heterozygous variant in NBAS causing bone fragility by the type of osteogenesis imperfecta DA Petukhova, EE Gurinova, AL Sukhomyasova, NR Maksimova Medical Genetics 19 (8), 52-53, 2020 | | 2020 |
| The case of multiple osteohondromas in Yakut family (Eastern Siberia, Russia) caused by rare mutation in the EXT2 gene AE Yakovleva, DA Petukhova, PI Golikova, EE Gurinova, AL Danilova, ... Medical Genetics 18 (12), 25-33, 2019 | | 2019 |
| WORKFLOW FOR EXOME SEQUENCING IN IDENTIFICA-TION OF DE NOVO MUTATION IN THE NCL6 GENE DA Petukhova, NR Maksimova, PI Guryeva, VS Kaymonov, MT Savvina THE TENTH, 237, 2016 | | 2016 |
