| Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly N Maksimova, K Hara, I Nikolaeva, T Chun-Feng, T Usui, M Takagi, ... Journal of medical genetics 47 (8), 538-548, 2010 | 122 | 2010 |
| Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia N Maksimova, K Hara, A Miyashia, I Nikolaeva, A Shiga, A Nogovicina, ... Journal of Medical Genetics 44 (12), 772-778, 2007 | 109 | 2007 |
| Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+ 1G> A in GJB2 gene as a result … NA Barashkov, LU Dzhemileva, SA Fedorova, FM Teryutin, OL Posukh, ... Journal of human genetics 56 (9), 631-639, 2011 | 94 | 2011 |
| Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms H Kondo, N Maksimova, T Otomo, H Kato, A Imai, Y Asano, K Kobayashi, ... Human molecular genetics 26 (1), 173-183, 2017 | 68 | 2017 |
| MtDNA and Y-chromosome lineages in the Yakut population VP Puzyrev, VA Stepanov, MV Golubenko, KV Puzyrev, NR Maximova, ... Russian Journal of Genetics 39, 816-822, 2003 | 56 | 2003 |
| The origin of Yakuts: analysis of the Y-chromosome haplotypes VN Kharkov, VA Stepanov, OF Medvedeva, MG Spiridonova, ... Molecular Biology 42, 198-208, 2008 | 52 | 2008 |
| ЛИНИИ мтДНК И¥-ХРОМОСОМЫ В ПОПУЛЯЦИИ ЯКУТОВ ВП Пузырёв, ВА Степанов, МВ Голубенко, КВ Пузырёв, НР Максимова, ... Генетика 39 (7), 975-975, 2003 | 51 | 2003 |
| Analysis of mitochondrial DNA haplotypes in Yakut population SA Fedorova, MA Bermisheva, R Villems, NR Maksimova, ... Molekuliarnaia Biologiia 37 (4), 643-653, 2003 | 33 | 2003 |
| Structural variability, expression profile, and pharmacogenetic properties of TMPRSS2 gene as a potential target for COVID-19 therapy A Zarubin, V Stepanov, A Markov, N Kolesnikov, A Marusin, I Khitrinskaya, ... Genes 12 (1), 19, 2020 | 30 | 2020 |
| Analysis of mitochondrial DNA lineages in Yakuts SA Fedorova, MA Bermisheva, R Villems, NR Maksimova, ... Molecular Biology 37, 544-553, 2003 | 26 | 2003 |
| Hereditary diseases among Yakuts VP Puzyrev, NP Maximova Russian Journal of Genetics 44 (10), 1141-1147, 2008 | 21 | 2008 |
| Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia) NA Barashkov, LU Dzhemileva, SA Fedorova, NR Maksimova, ... Vestnik otorinolaringologii, 23-28, 2008 | 19 | 2008 |
| The frequency of SLCO1B1*5 polymorphism genotypes among Russian and Sakha (Yakutia) patients with hypercholesterolemia DA Sychev, GN Shuev, JV Chertovskih, NR Maksimova, AV Grachev, ... Pharmacogenomics and Personalized Medicine, 59-63, 2016 | 18 | 2016 |
| Frequency distribution of polymorphisms of CYP2C19, CYP2C9, VKORC1 and SLCO1B1 genes in the Yakut population FF Vasilyev, DA Danilova, VS Kaimonov, YV Chertovskih, NR Maksimova Research in pharmaceutical sciences 11 (3), 259-264, 2016 | 18 | 2016 |
| Analysis of mitochondrial 12S rRNA and tRNA (Ser (UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia LU Dzhemileva, OL Posukh, AM Tazetdinov, NA Barashkov, ... Genetika 45 (7), 982-991, 2009 | 18 | 2009 |
| Pharmacogenetic testing by polymorphic markers 681G> A and 636G> A CYP2C19 gene in patients with acute coronary syndrome and gastric ulcer in the Republic of Sakha (Yakutia) DS Fedorinov, KB Mirzaev, DV Ivashchenko, II Temirbulatov, DA Sychev, ... Drug Metabolism and Personalized Therapy 33 (2), 91-98, 2018 | 15 | 2018 |
| Detection of novel genetic markers of susceptibility to preeclampsia based on an analysis of the regulatory genes in the placental tissue VN Serebrova, EA Trifonova, TV Gabidulina, IY Bukharina, TA Agarkova, ... Molecular Biology 50, 768-776, 2016 | 15 | 2016 |
| Characterization of graphene oxide suspension for fluorescence quenching in DNA-diagnostics AN Kapitonov, GN Alexandrov, FD Vasileva, SA Smagulova, VB Timofeev, ... 한국재료학회지 26 (1), 1-7, 2016 | 13 | 2016 |
| Health status of Native people living in the Republic of Sakha (Yakutia) T Burtseva, T Uvarova, M Savvina, V Shadrin, S Avrusin, V Chasnyk International Journal of Circumpolar Health 72 (1), 21166, 2013 | 12 | 2013 |
| Population study of frequency of methylenetetrahydrofolate reductase C677T gene polymorphism in Yakutia MG Spiridonova, VA Stepanov, NR Maximova, VP Puzyrev Russian Journal of Genetics 40, 570-573, 2004 | 12 | 2004 |
Vadim StepanovInstitute for Medical GeneticsGeverifieerd e-mailadres voor medgenetics.ru
