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Hayane Akopyan
Hayane Akopyan
Institute of Hereditary Pathology of NAMS of Ukraine
在 ihp.lviv.ua 的电子邮件经过验证
标题
引用次数
引用次数
年份
Allelic polymorphisms in the MTHFR, MTR and MTRR genes in patients with cleft lip and/or palate and their mothers
LB Chorna, HR Akopyan, HV Makukh, IM Fedoryk
Cytology and genetics 45 (3), 177-181, 2011
342011
FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine
T Nguyen-Dumont, A Myszka, P Karpinski, MM Sasiadek, H Akopyan, ...
BMC Medical Genetics 19, 1-7, 2018
282018
Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c …
SO Sharapova, OE Pashchenko, AV Bondarenko, SS Vakhlyarskaya, ...
Frontiers in Immunology 11, 602482, 2021
272021
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?
T Nguyen-Dumont, P Karpinski, MM Sasiadek, H Akopyan, JA Steen, ...
Genetics research 102, e6, 2020
142020
The molecular genetic analysis of common ATM gene mutations among patients with Ataxia-telagiectasiasuspection
B Tretyak, H Makukh, N Kitsera, L Kostiuchenko, H Akopyan
Factors of experimental evolution of organisms 16, 251-5, 2015
122015
Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine
A Myszka, T Nguyen-Dumont, P Karpinski, MM Sasiadek, H Akopyan, ...
Familial cancer 17, 345-349, 2018
102018
Comparative analysis of the karyotype of new human cell line 4BL at long-term cultivation: Ploidy of the chromosomal set
HR Akopyan, NL Huleyuk, VO Kushniruk, DO Mykytenko, AP Iatsyshyna, ...
Cytology and genetics 47, 305-317, 2013
62013
Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father
M Dushar, J Nowaczyk, B Pyrżak, H Akopyan, R Śmigiel, A Walczak, ...
European Journal of Medical Genetics 64 (12), 104368, 2021
32021
Effect of SARS-COV-2 on pregnancy and fetus (literature review)
ОS Shkolnyk, AM Shlemkevych, OM Malanchuk, YB Sharhorodska, ...
Актуальні проблеми сучасної медицини: Вісник Української медичної …, 2021
12021
Search of futuristic principles for the concept of the medical center for young people
O Krasylnykov, V Proskuryakov, H Akopyan
Teka Komisji Architektury, Urbanistyki i Studiów Krajobrazowych 14 (2), 38-42, 2018
12018
Cytogenetic assay in apoptosis investigations.
H Akopyan, A Sirenko, I Sedneva, M Jakimovich, O Kluchivska, R Stojka, ...
Folia Histochemica et Cytobiologica 39, 158-160, 2001
12001
Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine
O Boyarchuk, L Kostyuchenko, H Akopyan, A Bondarenko, A Volokha, ...
Frontiers in Immunology 15, 1428724, 2024
2024
The high incidence of SMA detection with initial step of newborn screening in Ukraine
B Tretiak, K Sosnina, I Shymanska, I Polishchuk, H Akopyan, H Makukh
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 225-225, 2024
2024
OPHTALMOLOGICAL CHANGES IN THE ALGORITHM OF DIAGNOSIS OF RARE (ORPHAN) DISEASE IN CHILDREN
HS Chaykovska, OZ Hnateiko, HR Akopyan, VD Mikhel
Актуальні проблеми сучасної медицини: Вісник Української медичної …, 2023
2023
Дослідження експансії тринуклеотидних CAG-повторів гена андрогенового рецептора у пацієнтів з підозрою на синдром Кеннеді
BI Tretiak, MY Tyrkus, KY Bakum, DV Zastavna, HR Akopyan
Faktori eksperimental'noi evolucii organizmiv 33, 104-108, 2023
2023
Genetic data protection as an indispensable element of genomic medicine development
M Madej, P Karpiński, H Akopyan, M Witt, MM Sąsiadek
Polskie Archiwum Medycyny Wewnętrznej 133 (2), 2023
2023
Genetic testing of allelic variants of PIZ (GLU342Lys, RS28929474) and PIS (GLU264Val, RS17580) of SERPINA1 gene in children with bronchial asthma
I Shymanska, О Trutiak, О Lychkovska, H Makukh, H Akopyan
EUREKA: Life Sciences, 36-44, 2022
2022
Analysis of the PAH Gene Mutations in the Ukrainian Population: A Report from the West Ukrainian Region
HV Makukh, LB Chorna, MY Tyrkus, HR Akopyan, VI Shuvarska, ...
Cytology and Genetics 55, 414-419, 2021
2021
The result of NGS disease specific panel for practical genetic diagnostics of neuromuscular disorders.
I Haiboniuk, H Makukh, O Semeriak, M Dushar, H Akopyan
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 441-441, 2020
2020
Identification of a new mutation in ZEB2 gene in a Ukrainian girl with Mowat-Wilson Syndrome
Y Sharhorodska, M Dushar, N Prokopchuk, H Akopyan, H Makukh
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1882-1882, 2019
2019
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