| 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 | 35 | 2021 |
| 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 | 35 | 2011 |
| 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 | 30 | 2018 |
| 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 | 15 | 2020 |
| 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 | 12 | 2015 |
| 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 | 11 | 2018 |
| 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 | 6 | 2013 |
| 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 | 3 | 2024 |
| 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 | 3 | 2021 |
| 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 | 2 | 2023 |
| 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 | 1 | 2021 |
| 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 | 1 | 2021 |
| 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 | 1 | 2018 |
| 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 | 1 | 2001 |
| 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 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 |
| 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 |
