Polina Chausova

6PUBLICATIONS
38CO-AUTHORS
Neurology and neuromuscular diseasesNeonatologyEpigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)Molecular medicine
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Publications (6)

|May 04, 2026
Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant.

|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

|Feb 13, 2025
A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.

Polina Chausova, Tatiana Cherevatova, Elena Dadali

|Dec 28, 2024
[A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs].

G E Rudenskaya, F M Bostanova, A S Medvedeva

|May 23, 2023
Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation.

Kristina Mikhalchuk, Olga Shchagina, Alena Chukhrova

|May 13, 2023
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene.

Polina Chausova, Aysylu Murtazina, Anna Stepanova

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Frequent Collaborators

4 joint publications

Olga Shchagina

3 joint publications

Aysylu Murtazina

2 joint publications

Oxana Ryzhkova

2 joint publications

Viktoria Zabnenkova