Olga Shatokhina

18PUBLICATIONS
42CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Sensory systemsAdolescent healthGene mapping
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Publications (18)

|Jul 03, 2026
Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

|Jul 29, 2025
Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Daria Gorodilova, Elena Dadali, Vladimir Kenis

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

Polina Chausova, Tatiana Cherevatova, Elena Dadali

|Feb 12, 2025
A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.

Gaziz Sharifovich Tufatulin, Ekaterina Sergeevna Garbaruk, Maria Rafaelievna Lalayants

|Jul 29, 2024
[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation].

G E Rudenskaya, D M Guseva, O L Shatokhina

|Feb 09, 2024
The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.

Olga Shatokhina, Fatima Bostanova, Maria Bulakh

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Frequent Collaborators

11 joint publications

Oхana Ryzkova

4 joint publications

Tatiana Markova

4 joint publications

Olga Shchagina

4 joint publications

George Tavartkiladze