Ekaterina I. Surkova
Moscow, MOW, Russian Federation
Last Updated: 09/26/2026
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Found 12 publications
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.
Journal: The Journal of international medical research
Published: November 01, 2023
Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.
Journal: The Journal of international medical research
Published: December 26, 2022
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.
Journal: BMC medical genetics
Published: January 28, 2020
Perspectives of the use of pharmacogenetic tests in neurology and psychiatry
Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
Published: October 19, 2019
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
Journal: Molecular genetics & genomic medicine
Published: May 09, 2019
Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.
Journal: BMC nephrology
Published: January 30, 2019
A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.
Journal: BMC dermatology
Published: August 10, 2018
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
Journal: BMC medical genetics
Published: June 01, 2018
Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing
Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
Published: April 14, 2018
Preclinical Toxicological Study of Release-Active Preparations for Prediction of Their Pharmacological Activity and Side Effects.
Journal: Bulletin of experimental biology and medicine
Published: June 03, 2015
Showing 1-12 of 12
Last Updated: 09/26/2026