Oхana Ryzkova

41PUBLICATIONS
147CO-AUTHORS
Neurology and neuromuscular diseasesGene mappingNeurogeneticsEnvironmental epidemiologyLiquid biopsies
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Publications (41)

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

|Jun 26, 2026
Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.

|Mar 05, 2026
[Autosomal dominant dyskinesia associated with the ADCY5 gene].

G E Rudenskaya, F M Bostanova, E L Dadaly

|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

|Jan 28, 2026
Transcriptomic Profile of Directed Differentiation of iPSCs into Hepatocyte-like Cells.

Irina Panchuk, Valeriia Kovalskaia, Konstantin Kochergin-Nikitsky

|Dec 30, 2025
First Symptomatic Pediatric Case of Hb Rothschild (HBB: c.112T>C, p.Trp38Arg): Low-Oxygen-Affinity Hemoglobin Presenting with Persistent Pseudohypoxemia.

Ekaterina Nuzhnaya, Andrey Marakhonov, Artem Ivanov

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Frequent Collaborators

11 joint publications

Olga Shatokhina

9 joint publications

G E Rudenskaya

8 joint publications

Valeriia Kovalskaia

8 joint publications

Olga Shchagina