Nadezhda Maksimova
North-Eastern Federal University
H-index: 14
Europe-Russia
Top articles of Nadezhda Maksimova
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
The Function of the NBAS Has Been Revealed, Will the Same Happen with Its Multisystem Pathologies? | LR Zhozhikov FF Vasilev NR Maksimova | 2023/4/1 | |
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines | International Journal of Molecular Sciences | Viktoriia Sofronova Elizaveta Gurinova Diana Petukhova Hiroko Fukamatsu Takenobu Yamamoto | 2023/3/15 |
Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS) | Genes | Viktoriia Sofronova Lyutsiya Gotovtseva Anastasia Danilova Aitalina Sukhomyasova Takahito Moriwaki | 2023/8/3 |
Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype | Leonid Zhozhikov Aitalina Sukhomyasova Elizaveta Gurinova Anna Nogovicina Filipp Vasilev | 2023/6 | |
The Function of the NBAS Has Been Revealed: What about Its Multisystem Pathologies? | LR Zhozhikov FF Vasilev NR Maksimova | 2023/4 | |
Molecular Genetic Study of Multiple Hereditary Exostoses in the EXT2 Gene | Aleksandra Yakovleva Anastasia Danilova Diana Petukhova Aitalina Sukhomyasova Nadezda Maksimova | 2022/1/17 | |
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 | 2022 | |
Clinical and molecular characteristics of ichthyosis in Yakutia | V Sofronova A Sukhomyasova N Maksimova | 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 | 2022 | |
Hematopoietic disorders, renal impairment and growth in mucopolysaccharidosis-plus syndrome | International journal of molecular sciences | Viktoriia Sofronova Rina Iwata Takuya Moriya Kiunniai Loskutova Elizaveta Gurinova | 2022/5/23 |
Reproductive genetic screening for heterozygous carriage of hereditary diseases in the Republic of Sakha (Yakutia) | AL Sukhomyasova AL Danilova TP Grigoreva AI Fedorov NR Maksimova | 2022 | |
Hereditary diseases and carrier’s screening programs in genetically isolated populations | MT Savvina NR Maksimova AL Sukhomyasova IN Lebedev | 2022 | |
Signals of directed selection in the Indigenous populations of Siberia | Russian Journal of Genetics | NA Kolesnikov VN Kharkov AA Zarubin MI Voevoda MA Gubina | 2022/4 |
DNA-microarray as an alternative diagnostic tool for targeted genetic carrier screening in population of Yakut ethnic group | M Savvina N Maksimova AL Danilova A Sukhomyasova I Lebedev | 2022 | |
Life Quality Assessment in Patients with Type 1 Spinocerebellar Ataxia in the Yakut Population | AA Maksimova AI Fedorov AL Sukhomyasova NR Maksimova | 2022/1/17 | |
Immunological Profiling of Patients with Rare Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly (SOPH) Syndrome | LR Zhozhikov FF Vasilev NR Maksimova | 2022/1/17 | |
Ethnic assortativeness and endogamy index among Yakuts in the Republic of Sakha (Yakutia) | A Danilova A Sukhomyasova A Yakovleva N Maksimova | 2022 | |
Pilot screening of cell-free mtDNA in NIPT: quality control, variant calling, and Haplogroup determination | Genes | Alisa Morshneva Polina Kozyulina Elena Vashukova Olga Tarasenko Natalia Dvoynova | 2021/5/14 |
Clinical and molecular genetic description of a new type of mucopolysaccharidosis in Yakutia | Medical Genetics | SN Novgorodova EE Gurinova AL Sukhomyasova VM Argunova LN Nikolaeva | 2021 |
Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family | Zhurnal Nevrologii i Psikhiatrii Imeni SS Korsakova | PI Golikova DA Petukhova AL Sukhomyasova T Ya Nikolaeva EE Gurinova | 2021/1/1 |
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