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Л. А. Бессонова

Observed names: L. A Bessonova, L. A. Bessonov, L. A. Bessonova, L. Bessonova, L.A. Bessonova, Liudmila A. Bessonova, Liudmila Bessonova, Liudmila А. Bessonova, Бессонова, Л.А., Л.А. Бессонова
ORCID: 0000-0002-5946-4577
Observed ORCID: 0000-0002-5946-4577
OpenAlex ID: A5090304361
De novo missense variants in FBXO11 alter its protein expression and subcellular localization
2021 · Anne Gregor, Tanja Meerbrei, et al. · Human Molecular Genetics · 19
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Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel
2022 · Olga Shatokhina, Nailya Galeeva, et al. · International Journal of Molecular Sciences · 8
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Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family
2020 · I. Viakhireva, E. Musatova, et al. · Familial Cancer · 3
FOXL2 mutations in Blepharophimosis-Ptosis-Epicanthus inversus syndrome
2019 · О.А. Щагина, Н.А. Демина, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika» · 3
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Somatic mosaicism in neurofibromatosis type 1
2019 · К.О. Карандашева, М.С. Пащенко, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika» · 3
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Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients
2024 · E. L. Dadali, T. V. Markova, et al. · Neuromuscular Diseases · 2
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Principles of the differential diagnosis of achondroplasia and pseudoachondroplasia
2023 · Tatiana V. Markova, Vladimir M. Kenis, et al. · Pediatric Traumatology Orthopaedics and Reconstructive Surgery · 2
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Autosomal dominant intellectual disability associated with the MED13L gene
2022 · O. A. Levchenko, G. E. Rudenskaya, et al. · Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) · 2
Clinical and genetic characteristics of TRPV4-associated skeletal dysplasias in Russian patients
2022 · Маркова, Т.В., Кенис, В.М., et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika» · 1
A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene
2021 · Inna V. Sharkova, Maria V. Bulakh, et al. · Annals of Clinical and Experimental Neurology · 1
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Clinical and genetic characteristics of type 3 lissencephaly caused by a mutation in the TUBA1A gene (OMIM: 611603)
2021 · D. M. Guseva, T. V. Markova, et al. · Neuromuscular Diseases · 1
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Clinical-genetic Features of the Knobloch Syndrome in the Russian Family
2018 · Olga V. Khlebnikova, E. L Dadali, et al. · Russian Pediatric Ophthalmology · 1
Медицинская технология комплексной ДНК-диагностики туберозного склероза
2018 · К. И. Аношкин, К. О. Карандашева, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika» · 1
Stankiewicz–isidor Syndrome Caused by a Microdeletion of the Long Arm of Chromosome 17: a Case Report and Literature Review
2026 · A.S. Iakovleva, Zh.G. Markova, et al. · PEDIATRIA Journal named after G N SPERANSKY
Independent coexistence of diseases in neurogenetics: case reports and literature review
2026 · Galina E. Rudenskaya, A. S. Kuchina, et al. · Neuromuscular Diseases
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A rare case of uniparental disomy 9 concomitant with low-level mosaicism
2025 · A. S. Iakovleva, Zh. G. Markova, et al. · Vavilov Journal of Genetics and Breeding
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Clinical and genetic characteristics of patients with MN1 gene dysfunction after the two clinical case reports
2025 · Zh.G. Markova, A.S. Kuchina, et al. · PEDIATRIA Journal named after G N SPERANSKY
Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene
2024 · E. L. Dadali, T. V. Markova, et al. · Neuromuscular Diseases
Spectrum of detected genetic variants in NSD1 gene in Patients with Sotos syndrome
2021 · Володин, И.В., Агеева, Ф.А., et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
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Characterization of genomic imbalance in patients with balanced chromosomal rearrangements and abnormal phenotypes
2020 · М.Е. Миньженкова, Ж.Г. Маркова, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
Результаты использования новой медицинской технологии комплексной ДНК-диагностики синдрома Сотоса
2018 · Ilya V. Volodin, А. С. Танас, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
Семейная сложная хромосомная перестройка с участием хромосом 2, 3, 18: фенотипические эффекты и значимость комплексного молекулярно-цитогенетического исследования
2018 · М.Е. Миньженкова, Ж.Г. Маркова, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
Молекулярно-генетический анализ 617 российских пациентов с клиническим диагнозом «нейрофиброматоз»: новые патогенные и редкие непатогенные генетические варианты
2018 · М. С. Пащенко, К. О. Карандашева, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
Результаты использования новой медицинской технологии комплексной ДНК-диагностики нейрофиброматоза
2016 · М. С. Чаплыгина, E B Kuznetsova, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
Works count: 25
Citation count: 47
H-index: 3
I10-index: 1
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