Maria Akhkiamova

4PUBLICATIONS
25CO-AUTHORS
Gene mappingNeonatologyNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)
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Journal

Publications (4)

|May 27, 2026
Rare SMA Patients: A Comprehensive Look at Clinical Features, Genetic Profiles and Therapeutic Approaches.

|Aug 28, 2025
Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.

Maria A Akhkiamova, Andrey V Marakhonov, Victoria V Zabnenkova

|Oct 16, 2024
Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene.

Anna Kuchina, Aysylu Murtazina, Artem Borovikov

|Jul 27, 2024
Rare Variants of the SMN1 Gene Detected during Neonatal Screening.

Maria Akhkiamova, Aleksander Polyakov, Andrey Marakhonov

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Frequent Collaborators

4 joint publications

Olga Shchagina

3 joint publications

Kristina Mikhalchuk

2 joint publications

Andrey V Marakhonov

1 joint publications

Victoria V Zabnenkova