| Genetic screening of Russian Usher syndrome patients toward selection for gene therapy ME Ivanova, VN Trubilin, DS Atarshchikov, AM Demchinsky, VV Strelnikov, ... Ophthalmic Genetics 39 (6), 706-713, 2018 | 18 | 2018 |
| Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome P Sparber, A Filatova, I Anisimova, T Markova, V Voinova, A Chuhrova, ... European Journal of Medical Genetics 63 (12), 104088, 2020 | 12 | 2020 |
| Complex diagnostics of non-specific intellectual developmental disorder O Levchenko, E Dadali, L Bessonova, N Demina, G Rudenskaya, ... International Journal of Molecular Sciences 23 (14), 7764, 2022 | 10 | 2022 |
| KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families GE Rudenskaya, VA Kadnikova, OP Ryzhkova, LA Bessonova, EL Dadali, ... BMC neurology 20 (1), 290, 2020 | 10 | 2020 |
| Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene T Markova, P Sparber, A Borovikov, T Nagornova, E Dadali Molecular Genetics & Genomic Medicine 9 (3), e1620, 2021 | 7 | 2021 |
| Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy O Mironovich, E Dadali, S Malmberg, T Markova, O Ryzhkova, A Poliakov Genes 11 (11), 1238, 2020 | 7 | 2020 |
| Clinical and genetic characteristics of multiple epiphyseal dysplasia type 4 T Markova, V Kenis, E Melchenko, A Alieva, T Nagornova, A Orlova, ... Genes 13 (9), 1512, 2022 | 6 | 2022 |
| Clinical and genetic characteristics of COL2A1-associated skeletal dysplasias in 60 Russian patients: Part I T Markova, V Kenis, E Melchenko, D Osipova, T Nagornova, A Orlova, ... Genes 13 (1), 137, 2022 | 6 | 2022 |
| Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel O Shatokhina, N Galeeva, A Stepanova, T Markova, M Lalayants, ... International Journal of Molecular Sciences 23 (24), 15748, 2022 | 5 | 2022 |
| Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review A Tyurin, E Merkuryeva, A Zaripova, T Markova, T Nagornova, I Dantsev, ... Biomedicines 10 (10), 2363, 2022 | 5 | 2022 |
| Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene TV Markova, V Kenis, E Melchenko, D Guseva, D Osipova, N Galeeva, ... Molecular Genetics & Genomic Medicine 10 (5), e1904, 2022 | 4 | 2022 |
| Exome sequencing of 100 patients with intellectual disability O Levchenko, EL Dadali, L Bessonova, N Demina, GE Rudenskaya, ... European Journal of Human Genetics 27 (S2), 1390-1391, 2019 | 4 | 2019 |
| A variant of intrauterine correction of complications of hypoplastic syndrome of the left heart NV Kosovtsova, NV Bashmakova, TV Markova, NN Potapov Russian Bulletin of Obstetrician-Gynecologist 15 (1), 56-59, 2015 | 4 | 2015 |
| Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome V Zabnenkova, O Shchagina, O Makienko, G Matyushchenko, ... The Application of Clinical Genetics, 1-10, 2022 | 3 | 2022 |
| Clinical and genetic characteristics and orthopedic manifestations of the Saul–Wilson syndrome in two Russian patients TV Markova, VM Kenis, EV Melchenko, NA Demina, P Gundorova, ... Pediatric Traumatology, Orthopaedics and Reconstructive Surgery 8 (4), 451-460, 2020 | 3 | 2020 |
| Rare autosomal recessive spastic paraplegias GE Rudenskaya, VA Kadnikova, AL Chukhrova, TV Markova, ... Medical Genetics 18 (11), 26-35, 2019 | 3 | 2019 |
| Detection and serological screening of conditionally-pathogenic enterobacteria isolated from food products and the environment NR Efimochkina, SA Sheveleva, IB Kuvaeva, FS Fluer, B SIu, S NIa, ... Voprosy Pitaniia 71 (6), 29-34, 2002 | 3 | 2002 |
| Rare IFT140-associated phenotype of cranioectodermal dysplasia and features of diagnostic journey in patients with suspected ciliopathies M Sharova, T Markova, M Sumina, M Petukhova, M Bulakh, O Ryzhkova, ... Genes 14 (8), 1553, 2023 | 2 | 2023 |
| Upper Limb Pathology in Children with Mucopolysaccharidoses VM Kenis, EV Melchenko, TV Markova, A Al Kaissi, AV Sapogovskiy, ... Traumatology and Orthopedics of Russia 27 (2), 34-43, 2021 | 2 | 2021 |
| Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene TV Markova, EL Dadali, SS Nikitin, AF Murtazina, OL Mironovich, ... Nervno-Myšečnye Bolezni= Neuromuscular Diseases 11 (2), 48, 2021 | 2 | 2021 |
Elena DadaliResearch centre for medical genetics在 med-gen.ru 的电子邮件经过验证
