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D. A. Petukhova
D. A. Petukhova
North-Eastern Federal University
Medicine
Missense mutation
Osteogenesis imperfecta
Short stature
Compound heterozygosity
3
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Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family
2021
Zhurnal Nevrologii I Psikhiatrii Imeni S S Korsakova
P I Golikova
D. A. Petukhova
Aitalina Sukhomyasova
T. Ya. Nikolaeva
E. E. Gurinova
R N Ivanova
N. R. Maksimova
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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
D. A. Petukhova
Aitalina Sukhomyasova
N. R. Maksimova
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Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta
2020
ISBRA | International Symposium on Bioinformatics Research and Applications
D. A. Petukhova
E. E. Gurinova
Aitalina Sukhomyasova
Nadezda R. Maksimova
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