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Fonova Elizaveta
Fonova Elizaveta
其他姓名Фонова Елизавета
Research Institute of Medical Genetics of Russian Academy of Medical Sciences
在 medgenetics.ru 的电子邮件经过验证
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引用次数
引用次数
年份
Delineation of clinical manifestations of the inherited Xq24 microdeletion segregating with sXCI in mothers: two novel cases with distinct phenotypes ranging from UBE2A …
EN Tolmacheva, AA Kashevarova, LP Nazarenko, LI Minaycheva, ...
Cytogenetic and Genome Research 160 (5), 245-254, 2020
162020
Дневные чешуекрылые (Insecta, Lepidoptera: Hesperioidea, Papilionoidea) Аяно-Майского района Хабаровского края
ЕВ Новомодный, ЕА Фонова
Амурский зоологический журнал 2 (4), 322-337, 2010
102010
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
R Essers, IN Lebedev, A Kurg, EA Fonova, SJC Stevens, RM Koeck, ...
Nature Medicine 29 (12), 3233-3242, 2023
62023
Butterflies (Insecta, Lepidoptera: Hesperioidea, Papilionoidea) from the Ayano-Maiskii District of Khabarovskii Krai Province
EV Novomodnyi, EA Fonova
Amurian zoological journal 2 (4), 322-337, 2010
62010
46, XY, r (8)/45, XY,− 8 mosaicism as a possible mechanism of the imprinted Birk-Barel syndrome: A case study
AA Kashevarova, TV Nikitina, LI Mikhailik, EO Belyaeva, SA Vasilyev, ...
Genes 11 (12), 1473, 2020
42020
X-linked CNV in pathogenetics of intellectual disability
EN Tolmacheva, EA Fonova, IN Lebedev
Russian Journal of Genetics 58 (10), 1193-1207, 2022
22022
Skewed X-chromosome inactivation as a possible marker of X-linked CNV in women with pregnancy loss
EA Fonova, EN Tolmacheva, AA Kashevarova, EA Sazhenova, ...
Cytogenetic and Genome Research 162 (3), 97-108, 2022
22022
Modifier genes as a cause of Wilson–Konovalov disease clinical polymorphism
AE Postrigan, IZ Zhalsanova, EA Fonova, NA Skryabin
Russian Journal of Genetics 57, 522-532, 2021
22021
Гены-модификаторы как причина клинического полиморфизма болезни Вильсона–Коновалова
АЕ Постригань, ИЖ Жалсанова, ЕА Фонова, НА Скрябин
Генетика 57 (5), 516-527, 2021
22021
Epigenetic modifications of the X chromosome in families with miscarriage
EN Tolmacheva, EA Sazhenova, TV Nikitina, EA Fonova, ME Lopatkina, ...
Medical Genetics 19 (11), 81-82, 2020
22020
Эпигенетические модификации Х-хромосомы в семьях с невынашиванием беременности
ЕН Толмачева, ЕА Саженова, ТВ Никитина, ЕА Фонова, МЕ Лопаткина, ...
Медицинская генетика 19 (11), 81-82, 2020
22020
Эпигенетическая модификация Х-сцепленных CNV в норме и патологии
ЕН Толмачёва, АА Кашеварова, ЛП Назаренко, НА Скрябин, ...
Медицинская генетика 17 (11), 29-33, 2018
22018
The ATOX1 Gene Role in Copper Metabolism and the Pathogenesis of Copper-Induced Diseases
IZ Zhalsanova, EA Fonova, DI Zhigalina, NA Skryabin
Russian Journal of Genetics 59 (3), 242-250, 2023
12023
Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.
AA Sivtsev, IZ Zhalsanova, AE Postrigan, EA Fonova, OY Vasilyeva, ...
Klinicheskaia Laboratornaia Diagnostika 67 (4), 250-256, 2022
12022
Clinical effects of single-gene duplication of Xp11. 4 involving the TSPAN7 gene
EN Tolmacheva, AA Kashevarova, EO Belyaeva, OA Salyukova, ...
Medical Genetics 20 (9), 45-47, 2021
12021
Х-сцепленные CNV и асимметричная инактивация Х-хромосомы
ЕА Фонова, ЕН Толмачева, АА Кашеварова, МЕ Лопаткина, ...
Медицинская генетика 19 (3), 19-21, 2020
12020
Current aspects and approaches to molecular diagnostics of hereditary neuromuscular diseases
EA Fonova, IZ Zhalsanova, NA Skryabin
RUDN Journal of Medicine 28 (2), 282-292, 2024
2024
A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13. 1-p12. 1 duplication
TV Karamysheva, IN Lebedev, LI Minaycheva, LP Nazarenko, ...
Frontiers in Genetics 15, 1331066, 2024
2024
The nature and prevalence of chromosomal dynamics in early spontaneous pregnancy loss
R Essers, I Lebedev, A Kurg, E Fonova, S Stevens, U von Rango, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 24-25, 2024
2024
The level of methylation of the LINE-1 retrotransposon subfamilies in the placenta of the first trimester of pregnancy
V Demeneva, E Tolmacheva, T Nikitina, E Sazhenova, E Fonova, A Zuev, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 326-326, 2024
2024
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