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Anastasia M. Bobreshova

Observed names: A. M. Bobreshova, Anastasia Bobreshova, Бобрешова, А.М.
ORCID: 0009-0001-3476-053X
Observed ORCID: 0009-0001-3476-053X
OpenAlex ID: A5094248787
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia
2026 · Andrey Marakhonov, Anna Mukhina, et al. · Frontiers in Immunology · 4
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Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome
2024 · Anastasia M. Bobreshova, Sofya A. Ionova, et al. · International Journal of Molecular Sciences · 4
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Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion—novel findings and literature review
2025 · Ekaterina Nuzhnaya, Tatiana Cherevatova, et al. · Frontiers in Genetics · 3
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FLNC Complex Structural Variant Causing Distal Myopathy Identified by Family‐Based Genome Sequencing
2026 · Dmitrii Subbotin, Anait Voskanyan, et al. · American Journal of Medical Genetics Part A · 1
A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1
2026 · Tatyana Vasilyeva, Nataliya Kashirskaya, et al. · International Journal of Molecular Sciences
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Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family
2026 · Anastasia Bobreshova, Irina Efimova, et al. · Molecular Syndromology
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Популяционная распространенность тяжелых первичных иммунодефицитов Т- и В-клеток на основании ретроспективного скрининга новорожденных 2021 года Удмуртской Республики
2026 · Балинова, Н.В., Марахонов, А.В., et al. · National repository of research data in engineering
Interdisciplinary approach to diagnosis of life-threatening form of albinism: Germanic-Pudlac syndrome case type 1
2024 · A. M. Bobreshova, S. A. Ionova, et al. · Archives of Pediatrics and Pediatric Surgery
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Works count: 8
Citation count: 12
H-index: 3
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