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Author

Maria Akhkiamova

Observed names: M. A. Akhkiamova, MA Akhkyamova, Maria A. Akhkiamova, Mariya Ahkyamova, Mariya Akhkiamova
ORCID: 0000-0002-7244-9654
Observed ORCID: 0000-0002-7244-9654
OpenAlex ID: A5073176116
Factors modifying the course of spinal muscular atrophy 5q
2024 · M. A. Akhkiamova, O. A. Shchagina, et al. · Neuromuscular Diseases · 6
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Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children
2022 · Kirill Savostyanov, Nikolay Murashkin, et al. · International Journal of Molecular Sciences · 5
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Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene
2024 · Anna Kuchina, Aysylu Murtazina, et al. · International Journal of Molecular Sciences · 3
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Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation
2025 · Maria A. Akhkiamova, Andrey V. Marakhonov, et al. · International Journal of Molecular Sciences · 2
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Rare Variants of the SMN1 Gene Detected during Neonatal Screening
2024 · Maria Akhkiamova, Aleksander Polyakov, et al. · Genes · 1
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A case report of DOPA-responsive dystonia in a young woman
2020 · NA Belykh, MA Akhkyamova, et al. · Bulletin of Russian State Medical University · 1
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Rare SMA Patients: A Comprehensive Look at Clinical Features, Genetic Profiles and Therapeutic Approaches
2026 · Kristina Mikhalchuk, Svetlana Artemieva, et al. · International Journal of Molecular Sciences
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Gene therapy
2026 · A.V. Marahonov, S.A. Smirnihina, et al.
Works count: 8
Citation count: 18
H-index: 3
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