Alexander V Polyakov

9PUBLICATIONS
105CO-AUTHORS
Developmental genetics (incl. sex determination)Environmental epidemiologyNeonatologyCancer diagnosisNeurogenetics
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Publications (9)

|Feb 13, 2026
Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

Tatiana S Beskorovainaya, Tatiana V Markova, Aleksander V Polyakov

|Feb 06, 2026
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.

Valeriia A Kovalskaia, Tatiana B Cherevatova, Elena V Zinina

|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

|Apr 14, 2025
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

Artem Borovikov, Nailya Galeeva, Andrey Marakhonov

|Apr 05, 2024
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.

Andrey V Marakhonov, Irina Yu Efimova, Anna A Mukhina

|Oct 26, 2022
[Gyrate atrophy of the choroid and retina with ornithinemia and foveoschisis (clinical observation)].

I V Zolnikova, S V Milash, R A Zinchenko

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