| 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 | 62 | 2017 |
| A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report. NR Maksimova, EE Gurinova, AL Sukhomyasova, AL Danilova, ... Wiadomosci Lekarskie (Warsaw, Poland: 1960) 69 (2 Pt 2), 295-298, 2016 | 6 | 2016 |
| Oligonucleotide microarray based method for simultaneous diagnostic of 3-M syndrome, SOPH syndrome, tyrosinemia type 1, methaemoglobinaemia type 1, nonsyndromic hearing loss … MT Savvina, AL Sukhomyamova, PI Golikova, AL Danilova, ... Medical Genetics 18 (9), 24-33, 2019 | 2 | 2019 |
| 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 |
| Genetic carrier screening for monogenic disorders prevalent among yakut ethnic group using population specific low density DNA microarray M Savvina, N Maksimova, A Sukhomyasova EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 457-457, 2022 | | 2022 |
| 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 Bioinformatics of Genome Regulation and Structure/Systems Biology (BGRS/SB …, 2022 | | 2022 |
| Hereditary diseases and carrier’s screening programs in genetically isolated populations MT Savvina, NR Maksimova, AL Sukhomyasova, IN Lebedev Medical Genetics 21 (1), 3-13, 2022 | | 2022 |
| 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 |
| Low density oligonucleotide microarray for the detection of ethnospecific mutations causing five genetic disorders prevalent among the Yakut population M Savvina, N Maksimova, A Sukhomyasova EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 959-959, 2020 | | 2020 |
| Estimation of the heterozygote carrier frequency of frequent hereditary diseases in the Yakuts using oligonucleotide microarray MT Savvina, NR Maksimova, AL Sukhomyasova Medical Genetics 19 (7), 27-28, 2020 | | 2020 |
| 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 |
