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List of works by Ekaterina Surkova

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

scientific article published on 25 August 2018

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

article

Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing

scientific article published in January 2018

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare mutation

scientific article published on 11 August 2018

Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report

scientific article published on 08 April 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

scientific article published on 26 October 2019

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers

scientific article published on 15 May 2020

Preclinical Toxicological Study of Release-Active Preparations for Prediction of Their Pharmacological Activity and Side Effects.

scientific article published on 7 July 2016

T-Cadherin Expression in Melanoma Cells Stimulates Stromal Cell Recruitment and Invasion by Regulating the Expression of Chemokines, Integrins and Adhesion Molecules.

scientific article

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

scientific article published on 21 October 2020

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